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Author : G.R. Burgio
Publisher : Springer Science & Business Media
ISBN 13 : 3642680062
Total Pages : 265 pages
Book Rating : 4.6/5 (426 download)
Download or read book Trisomy 21 written by G.R. Burgio and published by Springer Science & Business Media. This book was released on 2013-03-07 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: With contributions by numerous experts
Author : André Frank Zimpel
Publisher : Vandenhoeck & Ruprecht
ISBN 13 : 3647701963
Total Pages : 213 pages
Book Rating : 4.6/5 (477 download)
Download or read book Trisomy 21 written by André Frank Zimpel and published by Vandenhoeck & Ruprecht. This book was released on 2016-07-11 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt: For a long time, it was assumed that a genetic disposition such as trisomy 21 enables predictions to be made about overall personality development. But, who could have ever imagined that people with trisomy 21 (Down syndrome) would also be capable of earning a university degree? We studied 1,294 people with trisomy 21. The results showed that people with trisomy 21 benefit more from abstract learning than their neurotypical counterparts. Two-year-olds with the syndrome first learn to read and only then to speak and will understand algebra better than arithmetic. Ignorance of neurodiversity inevitably leads to learning difficulties when these people are forced to learn at the same pace as others. This applies to autism and trisomy 21 to the same extent. That is why this book advocates the recognition of trisomy 21 as a variant in the spectrum of human neurodiversity.
Author : G. Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 9783211833773
Total Pages : 380 pages
Book Rating : 4.8/5 (337 download)
Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 1999-12-02 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.
Author :
Publisher : Odile Jacob
ISBN 13 : 2738192165
Total Pages : 301 pages
Book Rating : 4.7/5 (381 download)
Download or read book written by and published by Odile Jacob. This book was released on with total page 301 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : G. Lubec
Publisher : Springer Science & Business Media
ISBN 13 : 3709163803
Total Pages : 362 pages
Book Rating : 4.7/5 (91 download)
Download or read book The Molecular Biology of Down Syndrome written by G. Lubec and published by Springer Science & Business Media. This book was released on 2013-12-01 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains updated reviews and original research work on Down Syndrome focussing on brandnew results in neurobiology, in particular results on gene hunting (subtractive hybridization, differential display) and neurochemistry. The book provides new data such as a subtractive library of Down Syndrome brain showing cDNAs that are overexpressed or downregulated and can be regarded as a source for further research on the preliminary transcriptional data given. A 2D-electrophoretic map of human brain proteins including Down Syndrome brain protein expression established by in-gel-digestion of spots with subsequent MALDI-identification provides the scientific basis for protein work to the neuroscientist. Altogether, the book provides a series of new candidate genes possibly involved in Down Syndrome neurobiology, tools for neuroscience studies on Down Syndrome brain thus serving as a manual and updated views and aspects on Down Syndrome pathobiology.
Author : Felix F. De la Cruz
Publisher :
ISBN 13 :
Total Pages : 326 pages
Book Rating : 4.3/5 (91 download)
Download or read book Trisomy 21 (Down Syndrome) written by Felix F. De la Cruz and published by . This book was released on 1981 with total page 326 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ce document propose les différents progrès concernant la recherche des causes ainsi que de la prévention du syndrome de Down, une des formes de déficience intellectuelle les plus connues. Il est alors question de l'épidémiologie du syndrome de Down, incluant la fréquence ainsi que les grossesses à risques pour le développement d'une trisomie 21, des facteurs génétiques et de l'organisation génétique de cette aberration chromosomique.
Author :
Publisher :
ISBN 13 :
Total Pages : 20 pages
Book Rating : 4.:/5 (319 download)
Download or read book Facts about Down Syndrome written by and published by . This book was released on 1984 with total page 20 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Marie-Thérèse Meulders-Klein
Publisher : BRILL
ISBN 13 : 9047403037
Total Pages : 650 pages
Book Rating : 4.0/5 (474 download)
Download or read book Biomedicine, the Family and Human Rights written by Marie-Thérèse Meulders-Klein and published by BRILL. This book was released on 2002-04-01 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume examines the impact of advances in genetics and assisted reproduction technologies on family law, human rights and the rights of the child, including the effects of international treaties on national legislation. It surveys the theoretical, ethical and legal discussions with regard to biotechnology and family law issues and the search for a balance between safeguarding respect for human rights and fundamental freedoms and the need to ensure freedom of research. However, biotechnology impinges not only on isolated individuals and their rights, but also on unborn children, the family as a network of living relationships and the basic structure of any society, as well as the foundation of parentage and kinship, social organization as a whole and, finally, mankind itself. As the attention of the World turns to cloning, this book will contribute to the search for a balance between the rights and freedoms of born and yet to be born human beings and the quest for new technologies.
Author : Jorge Yunis
Publisher : Elsevier
ISBN 13 : 0323154832
Total Pages : 349 pages
Book Rating : 4.3/5 (231 download)
Download or read book Molecular Structure of Human Chromosomes written by Jorge Yunis and published by Elsevier. This book was released on 2012-12-02 with total page 349 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Structure of Human Chromosomes is an authoritative guide to genetics, focusing on human genome. This reference compiles contributions covering available knowledge on human genome structure and organization, which the previous researches fail to encompass. This text provides a comprehensive discussion of cytogenetic techniques, emphasizing their application to human genome studies and examinations. The book is divided into nine chapters. It explains the molecular organization and function of the human genome and the DNA sequences in man. It also discusses the localization of human gene by in situ hybridization and the approaches to gene mapping. The book describes the structure of the chromosomes and the trends in chromosome techniques; banding and polymorphism; and repetitive DNA and primate evolution. Various practitioners in genetics and biology will find this book a good reference. Students and novices in these fields will also find this book an excellent guide.
Author : Joseph Roger
Publisher : John Libbey Eurotext
ISBN 13 : 9780861966325
Total Pages : 574 pages
Book Rating : 4.9/5 (663 download)
Download or read book Epileptic Syndromes in Infancy, Childhood and Adolescence written by Joseph Roger and published by John Libbey Eurotext. This book was released on 2001 with total page 574 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text examines epileptic syndromes in infancy, childhood and adolescence.
Author : Qadoshyah Fish
Publisher : Lulu.com
ISBN 13 : 0979496233
Total Pages : 591 pages
Book Rating : 4.9/5 (794 download)
Download or read book Down Syndrome written by Qadoshyah Fish and published by Lulu.com. This book was released on 2008-11 with total page 591 pages. Available in PDF, EPUB and Kindle. Book excerpt: People with Down syndrome can do a lot; this is the reality. We will share with you, in this book, stories from people with Down syndrome who have excelled in many areas and live lives like many other people who do not have Down syndrome. We will also share with you stories about those with Down syndrome who have had medical problems and issues to deal with, yet give joy to those they come in contact with. -- Preface.
Author : Marina I. Carson
Publisher : Nova Publishers
ISBN 13 : 9781600216473
Total Pages : 246 pages
Book Rating : 4.2/5 (164 download)
Download or read book Focus on Mental Retardation Research written by Marina I. Carson and published by Nova Publishers. This book was released on 2007 with total page 246 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mental retardation is a term for a pattern of persistently slow learning of basic motor and language skills ("milestones") during childhood, and a significantly below-normal global intellectual capacity as an adult. One common criterion for diagnosis of mental retardation is a tested intelligence quotient (IQ) of 70 or below. This book examines new and critical research and issues in the field.
Author : Randall E. Auxier
Publisher : Open Court
ISBN 13 : 0812698983
Total Pages : 975 pages
Book Rating : 4.8/5 (126 download)
Download or read book The Philosophy of Hilary Putnam written by Randall E. Auxier and published by Open Court. This book was released on 2015-05-18 with total page 975 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hilary Putnam, who turned 88 in 2014, is one of the world’s greatest living philosophers. He currently holds the position of Cogan University Professor Emeritus of Harvard. He has been called “one of the 20th century’s true philosophic giants” (by Malcolm Thorndike Nicholson in Prospect magazine in 2013). He has been very influential in several different areas of philosophy: philosophy of mathematics, philosophy of language, philosophy of mind, and philosophy of science. This volume in the prestigious Library of Living Philosophers series contains 26 chapters original to this work, each written by a well-known philosopher, including the late Richard Rorty and the late Michael Dummett. The volume also includes Putnam’s reply to each of the 26 critical and descriptive essays, which cover the broad range of Putnam’s thought. They are organized thematically into the following parts: Philosophy and Mathematics, Logic and Language, Knowing and Being, Philosophy of Practice, and Elements of Pragmatism. Readers will also appreciate the extensive Intellectual Autobiography.
Author :
Publisher :
ISBN 13 :
Total Pages : 1848 pages
Book Rating : 4.:/5 (31 download)
Download or read book Cumulated Index Medicus written by and published by . This book was released on 1965 with total page 1848 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Robert J. Gorlin
Publisher : Oxford University Press
ISBN 13 : 0199747725
Total Pages : 1332 pages
Book Rating : 4.1/5 (997 download)
Download or read book Syndromes of the Head and Neck written by Robert J. Gorlin and published by Oxford University Press. This book was released on 2001-09-27 with total page 1332 pages. Available in PDF, EPUB and Kindle. Book excerpt: This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
Author : Gian Carlo Di Renzo
Publisher : Springer Nature
ISBN 13 : 3031317580
Total Pages : 455 pages
Book Rating : 4.0/5 (313 download)
Download or read book Prenatal Diagnostic Testing for Genetic Disorders written by Gian Carlo Di Renzo and published by Springer Nature. This book was released on 2023-07-21 with total page 455 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive volume covers all aspects of the revolution in prenatal diagnosis brought about by the introduction of non-invasive prenatal testing (NIPT), which primarily relies on the detection of free fetal DNA circulating in maternal blood from the early stages of pregnancy. The book explores the potential of NIPT to provide full genome screening of the fetus and identify many common or rare disorders. The counseling process, as well as the limitations and pitfalls of various techniques used to perform NIPT, are described, evaluated, and critically discussed by renowned international experts. The book also compares the new technology with more conventional tests, preimplantation diagnosis, and the invasive procedures currently in use. This book will be a valuable resource for gynecologists, obstetricians, geneticists, maternal-fetal medicine specialists, pathologists, neonatologists, reproductive medicine specialists, midwives, and anyone interested in prenatal genetic diagnosis.
Author : H. Kalter
Publisher : Springer Science & Business Media
ISBN 13 : 1461305217
Total Pages : 332 pages
Book Rating : 4.4/5 (613 download)
Download or read book Issues and Reviews in Teratology written by H. Kalter and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Why Efforts to Expand the Meaning of "Teratogen" Are Unacceptable Disagreement about nomenclature in teratology is not new. Dissent even about the very fabric of the discipline-what congenital malformations consist of-has often been voiced. Time, instead of resolving such diffi culties, has sometimes worsened them. For example, in the past it was agreed that congenital malforma tions are abnormalities of structure present at birth, but differences of opinion concerning where the line between normal and abnormal was to be drawn prevailed. It was obvious that, in order to discover the causes of congenital malformations and cast strategies for their prevention, it would be necessary to have knowledge of the baseline of their frequency, and that this required uniformity of definition of terms. Since malfor mations of primary social concern are those having grave outcomes (and are, paradoxically, also the commonest ones), it is logical that such condi tions were the first consideration of investigators and were the defects whose frequency was considered to comprise the required baseline.
