Trisomie 21, communication et insertion

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Publisher : Elsevier Masson
ISBN 13 : 2994098431
Total Pages : 203 pages
Book Rating : 4.9/5 (94 download)

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Book Synopsis Trisomie 21, communication et insertion by : Vincent Brun

Download or read book Trisomie 21, communication et insertion written by Vincent Brun and published by Elsevier Masson. This book was released on 2011-06-17 with total page 203 pages. Available in PDF, EPUB and Kindle. Book excerpt: En France, il naît actuellement plus d'un bébé porteur de trisomie 21 par jour. Il faut alors aider les parents à reprendre confiance en eux et à trouver des solutions adaptées à la prise en charge de l'enfant. Des rencontres, des entretiens avec des professionnels ou des associations peuvent contribuer à l'élaboration d'un projet de vie pour l'enfant et apportent un soutien aux familles concernées par ce handicap. Cet ouvrage aborde les problèmes de communication que rencontre l'enfant trisomique: de la perception sensorielle aux problèmes d'audition et de langage, de la motricité orofaciale à la dysphagie. Il s'intéresse également à la scolarisation de ces élèves et à leur insertion dans la vie sociale et fait le point sur leurs droits et les avancées faites dans leur accompagnement au quotidien.

Trisomie 21, communication et insertion

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Publisher :
ISBN 13 : 9782294703768
Total Pages : 100 pages
Book Rating : 4.7/5 (37 download)

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Book Synopsis Trisomie 21, communication et insertion by : Didier Lacombe

Download or read book Trisomie 21, communication et insertion written by Didier Lacombe and published by . This book was released on 2008 with total page 100 pages. Available in PDF, EPUB and Kindle. Book excerpt: Le point sur les problèmes de communication des enfants trisomiques, de la perception sensorielle aux problèmes d'audition et de langage, de la motricité orofaciale à la dysphagie

Trisomy 21

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Publisher : Springer Science & Business Media
ISBN 13 : 3642680062
Total Pages : 265 pages
Book Rating : 4.6/5 (426 download)

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Book Synopsis Trisomy 21 by : G.R. Burgio

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

Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis

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Publisher : Springer
ISBN 13 : 9811030359
Total Pages : 500 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 500 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.

Therapies and Rehabilitation in Down Syndrome

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Publisher : John Wiley & Sons
ISBN 13 : 9780470319970
Total Pages : 228 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Therapies and Rehabilitation in Down Syndrome by : Jean-Adolphe Rondal, PhD

Download or read book Therapies and Rehabilitation in Down Syndrome written by Jean-Adolphe Rondal, PhD and published by John Wiley & Sons. This book was released on 2007-04-04 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Therapies and Rehabilitation in Down Syndrome covers the entire lifespan of a DS patient, from infancy to 60 years and beyond, focusing not simply on identifying problems, but providing a detailed look at major therapeutic approaches. Discussion includes future genetic therapy, questions of quality of life, hormone and other therapies for medical problems, prevention and treatment of normal and pathological aging, as well as psychomotoric rehabilitation. This is an important book not only for scientists concerned with various facets of DS, but practitioners looking for guidelines for therapies and clinical application of research findings.

Agency and Communion in Social Psychology

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Publisher : Routledge
ISBN 13 : 1351336363
Total Pages : 332 pages
Book Rating : 4.3/5 (513 download)

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Book Synopsis Agency and Communion in Social Psychology by : Andrea Abele

Download or read book Agency and Communion in Social Psychology written by Andrea Abele and published by Routledge. This book was released on 2018-09-03 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: What are the ultimate motives that instigate individuals’ behaviours? What are the aims of social perception? How can an individuals’ behaviour be described both from the perspective of the actor and from the perspective of an observer? These are the basic questions that this book addresses using its proposed agency-communion framework. Agency (competence, assertiveness) refers to existence of an organism as an individual, to "getting ahead" and to individual goal-pursuit; communion (warmth, morality) refers to participation of an individual in a larger organism, to "getting along" and to forming bonds. Each chapter is written by experts in the field and use the agency-communion framework to explore a wide variety of topics, such as stereotypes, self-esteem, personality, power, and politics. The reader will profit from the deep insights given by leading researchers. The variety of theoretical approaches and empirical contributions shows that the parsimonious and simple structure of two types of content in behavior, motives, personality, self-concept, stereotypes, and more to build an overarching frame to different phenomena studied in psychology.

Human Chromosomes

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Publisher : Springer Science & Business Media
ISBN 13 : 1468401076
Total Pages : 247 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Human Chromosomes by : Eeva Therman

Download or read book Human Chromosomes written by Eeva Therman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 247 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukar yotes. Because my own background includes plant and animal cytoge netics, many of the examples are taken from organisms other than man. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phe nomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. The approach to citations is the exact opposite of that usually used in scientific papers. Whenever possible, the latest and/or most comprehen sive review has been cited, instead of the original publication. Thus the reader is encouraged to delve deeper into any question of interest to him or her. I am greatly indebted to many colleagues for suggestions and criticism. However, my special thanks are due to Dr. JAMES F. CROW, Dr. TRAUTE M. SCHROEDER, and Dr. CARTER DENNISTON for their courage in reading the entire manuscript. I wish to express my gratitude also to the cytogeneticists and editors who have generously permitted the use of published and unpublished photographs.

The Principles of Clinical Cytogenetics

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Publisher : Springer
ISBN 13 :
Total Pages : 580 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Principles of Clinical Cytogenetics by : Steven L. Gersen

Download or read book The Principles of Clinical Cytogenetics written by Steven L. Gersen and published by Springer. This book was released on 1999-03-17 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt: Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.

Cumulated Index Medicus

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Publisher :
ISBN 13 :
Total Pages : 1088 pages
Book Rating : 4.:/5 (31 download)

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Book Synopsis Cumulated Index Medicus by :

Download or read book Cumulated Index Medicus written by and published by . This book was released on 1985 with total page 1088 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cytogenetics

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Publisher : Springer Science & Business Media
ISBN 13 : 1461260604
Total Pages : 453 pages
Book Rating : 4.4/5 (612 download)

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Book Synopsis Cytogenetics by : J. Schulz-Schaeffer

Download or read book Cytogenetics written by J. Schulz-Schaeffer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since 1961 the author has taught a course in Cytogenetics at Montana State University. Undergraduate and graduate stu dents of Biology, Chemistry, Microbiology, Animal and Range Science, Plant and Soil Science, Plant Pathology and Veterinary Science are enrolled. Therefore, the subject matter has been pre sented in an integrated way to correlate it with these diverse disciplines. This book has been prepared as a text for this course. The most recent Cytogenetics text was published in 1972, and rapidly developing research in this field makes a new one urgently needed. This book includes many aspects of Cytogenetics and related fields and is written for the college student as well as for the researcher. It is recommended that the student should have taken preparatory courses in Principles of Genetics and Cytol ogy. The content is more than is usually taught during one quar ter of an academic year, thus allowing an instructor to choose what he or she would like to present to a class. This approach also allows the researcher to obtain a broad exposure to this field of biology. References are generously supplied to stimulate orig inal reading on the subject and to give access to valuable sources. The detailed index is intended to be of special assistance to researchers.

Epilepsy and Intellectual Disabilities

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Publisher : Springer Science & Business Media
ISBN 13 : 1848002599
Total Pages : 237 pages
Book Rating : 4.8/5 (48 download)

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Book Synopsis Epilepsy and Intellectual Disabilities by : Vee P. Prasher

Download or read book Epilepsy and Intellectual Disabilities written by Vee P. Prasher and published by Springer Science & Business Media. This book was released on 2008-09-15 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: Like many people with epilepsy and ID, John has comorbid behavior problems. This association is dealt with in detail later in the book. A clear and consistent approach to this is likely to offer much to John in terms of his quality of life. Other psychosocial concerns will need addressing. Emphasizing and explaining the impact of epilepsy and its treatment on John’s cognitive well-being can help reduce anxiety in caregivers and the family and help establish the importance of treatment. Informing people about the negative impact of seizures while trying to minimize the difficulties in social life imposed by people’s fears of seizures can be a difficult challenge. This is most difficult when discussing seizure-related death. However, our position must be to inform patients and families so they can make their life and treatment choices with complete understanding of choices and risks. Delivering a Package of Care Delivering continuity of health care will be a major need throughout John’s lifespan. This continuity should cover seizure assessment and management yet also be responsive to changes in the care environment. A person with ID who is no longer resident in the family home is likely to undergo many changes in staffing over a lifetime. As for many people, their ability to communicate their health needs will be compromised, and these changes in staff can offer considerable risks in chronic disease management.

Modern Trends in Aging Research

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Publisher : Scientific & Medical Publications of France, Incorporated
ISBN 13 :
Total Pages : 628 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Modern Trends in Aging Research by : Y. Courtois

Download or read book Modern Trends in Aging Research written by Y. Courtois and published by Scientific & Medical Publications of France, Incorporated. This book was released on 1986 with total page 628 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Fundamentals of Craniofacial Malformations

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Publisher : Springer Nature
ISBN 13 : 303046024X
Total Pages : 393 pages
Book Rating : 4.0/5 (34 download)

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Book Synopsis Fundamentals of Craniofacial Malformations by : Ulrich Meyer

Download or read book Fundamentals of Craniofacial Malformations written by Ulrich Meyer and published by Springer Nature. This book was released on 2021-06-24 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first volume in an interdisciplinary three-book series covering the full range of biological, clinical, and surgical aspects in the evaluation, diagnosis, and treatment of patients with craniofacial malformations. This volume opens by considering general topics such as developmental biology and disease classification and then examines in depth the biological basis of the various malformations, including craniosynostoses, cleft-lip and palate with complex orofacial clefts, branchio-oculo-facial syndromes, rare syndromes, soft tissue malformations, and dysgnathia. Psychological aspects, including psychological evaluation methods and therapies and quality of life issues, are then addressed. Finally, all relevant clinical, radiological, and genetic investigations are described and important diagnostic issues are explored. Featuring numerous high-quality illustrations, the book will be of high value for all clinicians, researchers, and postgraduate students who deal with these malformations. The accompanying two volumes describe treatment principles and present in an atlas manner all relevant surgical techniques in detail. The content of this multivolume set, written by the world’s leading research and clinical specialists in their discipline, represents therefore the recent intellect, experience, and state of this medical field.

Pathology of the Eye

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Publisher : Springer Science & Business Media
ISBN 13 : 1461385253
Total Pages : 1025 pages
Book Rating : 4.4/5 (613 download)

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Book Synopsis Pathology of the Eye by : G.O.H. Naumann

Download or read book Pathology of the Eye written by G.O.H. Naumann and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 1025 pages. Available in PDF, EPUB and Kindle. Book excerpt: It is indeed a pleasure to write a foreword for this spectacular book which represents a landmark in the history of ocular pathology. Not since the three volumes of the Henke-Lubarsch handbook appeared forty years ago has anything like this come on the market. This book represents a compre hensive, thorough and up-to-date clinically oriented textbook on ocular pathology. We are all indebted to the senior author, who is now professor of ophthal mology at the University of Erlangen, who presents us here with the fruit of decades of industrious endeavors. We also have to be grateful to the American ophthalmic pathologist, Dr. David Apple, who, as one of the main collaborators of the German edition, has now provided us with the English translation. The book has a twofold purpose: First, it is meant to be a source of instruction for ophthalmologists and pathologists. For that purpose it is beautifully illustrated both by clinical pictures and by excellent photomicro graphs and electromicroscopic pictures. Most valuable from a didactic point of view are the colored schematic drawings and the many tables. These two features are practically unique and should help any neophyte in grasp ing the principles of ocular pathology.

Perinatal Imaging

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Publisher : Springer Science & Business Media
ISBN 13 : 364256402X
Total Pages : 332 pages
Book Rating : 4.6/5 (425 download)

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Book Synopsis Perinatal Imaging by : Fred E. Avni

Download or read book Perinatal Imaging written by Fred E. Avni and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fetal and perinatal medicine is a rapidly expanding field, and noninvasive imaging by means of ultrasonography and MRI is playing a major role in refining diagnosis and therapy. Recent technological advances in these imaging modalities now allow unprecedented morphological depiction of the fetus and excellent insight into complex pathologic conditions, as well as yielding superior guidance for therapeutic fetal inter ventions. I am very pleased that Professor F. Avni , a leading international pediatric radiologist, was prepared to take on the challenging task of preparing and editing this comprehen sive and up-to-date overview of our knowledge in the area of fetal and perinatal imaging. He has been successful in engaging well-known experts with outstanding qualifications in fetal imaging to join him in this venture. I would like to congratulate Professor Avni and all contributing authors most sincerely for their excellent work. I am confident that this outstanding volume will meet with great interest not only from general as well as specialized pediatric radiologists but also from neonatologists and pediatricians. I trust it will enjoy the same success as many previous volumes in this series. ALBERT L. BAERT Leuven Preface Fetal and perinatal medicine would not have developed without the extensive use of obstetric ultrasound (US). In order to be efficient, the examination has to be performed very carefully and by sonologists fully conversant with the normal and abnormal development of the fetus.

American Journal of Medical Genetics

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Publisher :
ISBN 13 :
Total Pages : 732 pages
Book Rating : 4.:/5 (35 download)

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Book Synopsis American Journal of Medical Genetics by :

Download or read book American Journal of Medical Genetics written by and published by . This book was released on 1983 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Somaclonal Variation and Induced Mutations in Crop Improvement

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Publisher : Springer Science & Business Media
ISBN 13 : 9401591253
Total Pages : 615 pages
Book Rating : 4.4/5 (15 download)

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Book Synopsis Somaclonal Variation and Induced Mutations in Crop Improvement by : S.M. Jain

Download or read book Somaclonal Variation and Induced Mutations in Crop Improvement written by S.M. Jain and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 615 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic variability is an important parameter for plant breeders in any con ventional crop improvement programme. Very often the desired variation is un available in the right combination, or simply does not exist at all. However, plant breeders have successfully recombined the desired genes from cultivated crop gerrnplasm and related wild species by sexual hybridization, and have been able to develop new cultivars with desirable agronomie traits, such as high yield, disease, pest, and drought resistance. So far, conventional breeding methods have managed to feed the world's ever-growing population. Continued population growth, no further scope of expanding arable land, soil degradation, environ mental pollution and global warrning are causes of concern to plant biologists and planners. Plant breeders are under continuous pressure to improve and develop new cultivars for sustainable food production. However, it takes several years to develop a new cultivar. Therefore, they have to look for new technologies, which could be combined with conventional methods to create more genetic variability, and reduce the time in developing new cultivars, with early-maturity, and improved yield. The first report on induced mutation of a gene by HJ. Muller in 1927 was a major mi1estone in enhancing variation, and also indicated the potential applica tions of mutagenesis in plant improvement. Radiation sources, such as X-rays, gamma rays and fast neutrons, and chemical mutagens (e. g. , ethyl methane sulphonate) have been widely used to induce mutations.