Human Chromosome Variation: Heteromorphism and Polymorphism

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Publisher : Springer Science & Business Media
ISBN 13 : 9400708963
Total Pages : 216 pages
Book Rating : 4.4/5 (7 download)

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Book Synopsis Human Chromosome Variation: Heteromorphism and Polymorphism by : Herman E. Wyandt

Download or read book Human Chromosome Variation: Heteromorphism and Polymorphism written by Herman E. Wyandt and published by Springer Science & Business Media. This book was released on 2011-08-20 with total page 216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Chromosome Variation: Heteromorphism and Polymorphism was formerly printed under the title “Atlas of Human Chromosome Heteromorphism”. The Atlas has become a standard reference book in most cytogenetic laboratories and is cited as a significant reference in ISCN 2009. This revised version has updated and retained the most useful pictorial sections of the first edition, including the comprehensive review of normal and “not-so-normal” variations of the human karyotype with summaries and extensive reference lists organized by chromosome number. This updated edition features concise background information on chromosome methods and applications, essential information on heteromorphism frequencies in normal and clinical populations as well as new listing and discussions of euchromatic, subtelomeric and FISH variants. The addition of two new sections make this an even more valuable reference than before. A section on common and rare fragile sites includes a short historical discussion, definitions and an extensive table of officially recognized sites that includes the HUGO name, chromosomal location, methods of induction, genes and references to the most recent molecular characterization. A new section on array CGH discusses the clinical challenge of interpreting copy number variations (CNVs) revealed by this newest technology, gives examples of various levels of interpretation and lists the several most common websites used in this interpretation.

Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

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Author :
Publisher : Springer
ISBN 13 : 9811030359
Total Pages : 490 pages
Book Rating : 4.8/5 (11 download)

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Book Synopsis Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis by : Herman E. Wyandt

Download or read book Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis written by Herman E. Wyandt and published by Springer. This book was released on 2017-03-28 with total page 490 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.

Atlas of Human Chromosome Heteromorphisms

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Publisher : Springer Science & Business Media
ISBN 13 : 9401704333
Total Pages : 279 pages
Book Rating : 4.4/5 (17 download)

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Book Synopsis Atlas of Human Chromosome Heteromorphisms by : H.E. Wyandt

Download or read book Atlas of Human Chromosome Heteromorphisms written by H.E. Wyandt and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: Critical to the accurate diagnosis of human illness is the need to distinguish clinical features that fall within the normal range from those that do not. That distinction is often challenging and not infrequently requires considerable experience at the bedside. It is not surprising that accurate cytogenetic diagnosis is also often a challenge, especially when chromosome study reveals morphologic findings that raise the question of normality. Given the realization that modern human cytogenetics is just over five decades old, it is noteworthy that thorough documentation of normal chromosome var- tion has not yet been accomplished. One key diagnostic consequence of the inability to distinguish a “normal” variation in chromosome structure from a pathologic change is a missed or inaccurate diagnosis. Clinical cytogeneticists have not, however, been idle. Rather, progressive biotechnological advances coupled with virtual completion of the human genome project have yielded increasingly better microscopic resolution of chromosome structure. Witness the progress from the early short condensed chromosomes to the later visualization of chromosomes through banding techniques, hi- resolution analysis in prophase, and more recently to analysis by fluorescent in situ hybridization (FISH).

Genetic Variation and Its Maintenance

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Publisher : Cambridge University Press
ISBN 13 : 9780521332576
Total Pages : 318 pages
Book Rating : 4.3/5 (325 download)

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Book Synopsis Genetic Variation and Its Maintenance by : Derek Frank Roberts

Download or read book Genetic Variation and Its Maintenance written by Derek Frank Roberts and published by Cambridge University Press. This book was released on 1986-10-30 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume considers the genetic variability of human populations, particularly in the tropics: its origins and maintenance, and its contribution to the phenotypic variability of complex characters. The first section deals with the ways of analysing genetic variation and provides a valuable review of relevant developments in molecular biology. The origin and maintenance of genetic diversity is considered in the second section with data presented for Pacific, African, Asian and Central American populations. The final section concerns characters in which the genetic contribution to variability is complex and shows how such characters may be used to elucidate biological problems of affinity and differentiation, of adaptation and survival. Published as part of the Decade of the Tropics research programme of the International Union of Biological Sciences, this volume will be of particular interest to human geneticists, physical and biological anthropologists.

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

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Author :
Publisher : Oxford University Press
ISBN 13 : 019932901X
Total Pages : 634 pages
Book Rating : 4.1/5 (993 download)

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Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R.J. McKinlay Gardner

Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R.J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018-02-06 with total page 634 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Chromosome Abnormalities and Genetic Counseling

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Author :
Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.1/5 (953 download)

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Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner

Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Genetic Disorders, Syndromology and Prenatal Diagnosis

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Publisher : Springer Science & Business Media
ISBN 13 : 9401166692
Total Pages : 257 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis Genetic Disorders, Syndromology and Prenatal Diagnosis by : T.V.N. Persaud

Download or read book Genetic Disorders, Syndromology and Prenatal Diagnosis written by T.V.N. Persaud and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 257 pages. Available in PDF, EPUB and Kindle. Book excerpt: Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.

Chromosomal Variation in Man

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 9780471833369
Total Pages : 0 pages
Book Rating : 4.8/5 (333 download)

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Book Synopsis Chromosomal Variation in Man by : Digamber S. Borgaonkar

Download or read book Chromosomal Variation in Man written by Digamber S. Borgaonkar and published by John Wiley & Sons. This book was released on 1984 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Human Chromosomes

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Publisher : Springer Science & Business Media
ISBN 13 : 1461301394
Total Pages : 508 pages
Book Rating : 4.4/5 (613 download)

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Book Synopsis Human Chromosomes by : Orlando J. Miller

Download or read book Human Chromosomes written by Orlando J. Miller and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.

Mechanisms Driving Karyotype Evolution and Genomic Architecture

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Author :
Publisher : MDPI
ISBN 13 : 3036501568
Total Pages : 248 pages
Book Rating : 4.0/5 (365 download)

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Book Synopsis Mechanisms Driving Karyotype Evolution and Genomic Architecture by : Aurora Ruiz-Herrera

Download or read book Mechanisms Driving Karyotype Evolution and Genomic Architecture written by Aurora Ruiz-Herrera and published by MDPI. This book was released on 2021-08-31 with total page 248 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understanding of the origin of species and their adaptability to new environments is one of the main questions in biology. This is fueled by the ongoing debate on species concepts and facilitated by the availability of an unprecedented large number of genomic resources. Genomes are organized into chromosomes, where significant variations in number and morphology are observed among species due to large-scale structural variants such as inversions, translocations, fusions, and fissions. This genomic reshuffling provides, in the long term, new chromosomal forms on which natural selection can act upon, contributing to the origin of biodiversity. This book contains mainly articles, reviews, and an opinion piece that explore numerous aspects of genome plasticity among taxa that will help in understanding the dynamics of genome composition, the evolutionary relationships between species and, in the long run, speciation.

The AGT Cytogenetics Laboratory Manual

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 1119061229
Total Pages : 1216 pages
Book Rating : 4.1/5 (19 download)

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Book Synopsis The AGT Cytogenetics Laboratory Manual by : Marilyn S. Arsham

Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-04-24 with total page 1216 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.

Genetic Disorders and the Fetus

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Publisher : Springer Science & Business Media
ISBN 13 : 1468451553
Total Pages : 910 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.

Theories of Population Variation in Genes and Genomes

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Publisher : Princeton University Press
ISBN 13 : 0691165890
Total Pages : 431 pages
Book Rating : 4.6/5 (911 download)

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Book Synopsis Theories of Population Variation in Genes and Genomes by : Freddy Bugge Christiansen

Download or read book Theories of Population Variation in Genes and Genomes written by Freddy Bugge Christiansen and published by Princeton University Press. This book was released on 2014-11-23 with total page 431 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook provides an authoritative introduction to both classical and coalescent approaches to population genetics. Written for graduate students and advanced undergraduates by one of the world's leading authorities in the field, the book focuses on the theoretical background of population genetics, while emphasizing the close interplay between theory and empiricism. Traditional topics such as genetic and phenotypic variation, mutation, migration, and linkage are covered and advanced by contemporary coalescent theory, which describes the genealogy of genes in a population, ultimately connecting them to a single common ancestor. Effects of selection, particularly genomic effects, are discussed with reference to molecular genetic variation. The book is designed for students of population genetics, bioinformatics, evolutionary biology, molecular evolution, and theoretical biology--as well as biologists, molecular biologists, breeders, biomathematicians, and biostatisticians. Contains up-to-date treatment of key areas in classical and modern theoretical population genetics Provides in-depth coverage of coalescent theory Discusses genomic effects of selection Gives examples from empirical population genetics Incorporates figures, diagrams, and boxed features throughout Includes end-of-chapter exercises Speaks to a wide range of students in biology, bioinformatics, and biostatistics

Flow Cytometry with Plant Cells

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 3527610936
Total Pages : 479 pages
Book Rating : 4.5/5 (276 download)

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Book Synopsis Flow Cytometry with Plant Cells by : Jaroslav Dolezel

Download or read book Flow Cytometry with Plant Cells written by Jaroslav Dolezel and published by John Wiley & Sons. This book was released on 2007-06-27 with total page 479 pages. Available in PDF, EPUB and Kindle. Book excerpt: Targeted at beginners as well as experienced users, this handy reference explains the benefits and uses of flow cytometery in the study of plants and their genomes. Following a brief introduction that highlights general considerations when analyzing plant cells by flow cytometric methods, the book goes on to discuss examples of application in plant genetics, genomic analysis, cell cycle analysis, marine organism analysis and breeding studies. With its list of general reading and a glossary of terms, this first reference on FCM in plants fills a real gap by providing first-hand practical hints for the growing community of plant geneticists.

The AGT Cytogenetics Laboratory Manual

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Author :
Publisher : John Wiley & Sons
ISBN 13 : 1119061172
Total Pages : 1218 pages
Book Rating : 4.1/5 (19 download)

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Book Synopsis The AGT Cytogenetics Laboratory Manual by : Marilyn S. Arsham

Download or read book The AGT Cytogenetics Laboratory Manual written by Marilyn S. Arsham and published by John Wiley & Sons. This book was released on 2017-03-03 with total page 1218 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of chromosome morphology, structure, pathology, function, and behavior. The field has evolved to embrace molecular cytogenetic changes, now termed cytogenomics. Cytogeneticists utilize an assortment of procedures to investigate the full complement of chromosomes and/or a targeted region within a specific chromosome in metaphase or interphase. Tools include routine analysis of G-banded chromosomes, specialized stains that address specific chromosomal structures, and molecular probes, such as fluorescence in situ hybridization (FISH) and chromosome microarray analysis, which employ a variety of methods to highlight a region as small as a single, specific genetic sequence under investigation. The AGT Cytogenetics Laboratory Manual, Fourth Edition offers a comprehensive description of the diagnostic tests offered by the clinical laboratory and explains the science behind them. One of the most valuable assets is its rich compilation of laboratory-tested protocols currently being used in leading laboratories, along with practical advice for nearly every area of interest to cytogeneticists. In addition to covering essential topics that have been the backbone of cytogenetics for over 60 years, such as the basic components of a cell, use of a microscope, human tissue processing for cytogenetic analysis (prenatal, constitutional, and neoplastic), laboratory safety, and the mechanisms behind chromosome rearrangement and aneuploidy, this edition introduces new and expanded chapters by experts in the field. Some of these new topics include a unique collection of chromosome heteromorphisms; clinical examples of genomic imprinting; an example-driven overview of chromosomal microarray; mathematics specifically geared for the cytogeneticist; usage of ISCN’s cytogenetic language to describe chromosome changes; tips for laboratory management; examples of laboratory information systems; a collection of internet and library resources; and a special chapter on animal chromosomes for the research and zoo cytogeneticist. The range of topics is thus broad yet comprehensive, offering the student a resource that teaches the procedures performed in the cytogenetics laboratory environment, and the laboratory professional with a peer-reviewed reference that explores the basis of each of these procedures. This makes it a useful resource for researchers, clinicians, and lab professionals, as well as students in a university or medical school setting.

Poplars and Willows

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Author :
Publisher : CABI
ISBN 13 : 1780641087
Total Pages : 700 pages
Book Rating : 4.7/5 (86 download)

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Book Synopsis Poplars and Willows by : Jud G. Isebrands

Download or read book Poplars and Willows written by Jud G. Isebrands and published by CABI. This book was released on 2014-02-12 with total page 700 pages. Available in PDF, EPUB and Kindle. Book excerpt: Poplars and willows form an important component of forestry and agricultural systems, providing a wide range of wood and non-wood products. This book synthesizes research on poplars and willows, providing a practical worldwide overview and guide to their basic characteristics, cultivation and use, issues, problems and trends. Prominence is given to environmental benefits and the importance of poplar and willow cultivation in meeting the needs of people and communities, sustainable livelihoods, land use and development.

Migratory Fishes of South America

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Author :
Publisher : IDRC
ISBN 13 : 9780968395820
Total Pages : 388 pages
Book Rating : 4.3/5 (958 download)

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Book Synopsis Migratory Fishes of South America by : Joachim Carolsfeld

Download or read book Migratory Fishes of South America written by Joachim Carolsfeld and published by IDRC. This book was released on 2003 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: