Автор: MCKinlay Gardner, R.J.; Sutherland, Grant R; Shaffe Название: Chromosome Abnormalities and Genetic Counseling (Hardback) ISBN: 0195375335 ISBN-13(EAN): 9780195375336 Издательство: Oxford Academ Рейтинг: Цена: 8237.00 р. Наличие на складе: Поставка под заказ.
Описание: 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.
Описание: 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.
Автор: Wyandt Herman E., Tonk Vijay S. Название: Atlas of Human Chromosome Heteromorphisms ISBN: 1402013035 ISBN-13(EAN): 9781402013034 Издательство: Springer Рейтинг: Цена: 32142.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: 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.
Автор: Miller Orlando J., Therman Eeva Название: Human Chromosomes ISBN: 038795046X ISBN-13(EAN): 9780387950464 Издательство: Springer Рейтинг: Цена: 12577.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: 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. It covers both basic and up-to-date material on normal and defective chromosomes. This new edition 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. From the reviews of the third edition: "Each word "tells" in this concise gem of a human cytogenetics text...Superb organization makes this an excellent text...for any cytogenetics course." American Journal of Human Genetics"...the leading textbook in English on human cytogenetics." Cell
Автор: Liehr Название: Small Supernumerary Marker Chromosomes (sSMC) ISBN: 364243536X ISBN-13(EAN): 9783642435362 Издательство: Springer Рейтинг: Цена: 10447.00 р. Наличие на складе: Есть у поставщика Поставка под заказ.
Описание: With numerous case studies complementing the theoretical aspects of the subject, and focusing on genetic diagnostics as well as on prenatal and fertility-related genetic counseling, this book is the first of its kind and includes the latest research on sSMCs.
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