Im Genes En Ca A De Ma Z

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The Genetics Of Neurodevelopmental Disorders

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Author : Kevin J. Mitchell
language : en
Publisher: John Wiley & Sons
Release Date : 2015-07-21

The Genetics Of Neurodevelopmental Disorders written by Kevin J. Mitchell and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-07-21 with Medical categories.

Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting. The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions. A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.

Genetics In Ophthalmology

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Author : B. Wissinger
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2003-01-01

Genetics In Ophthalmology written by B. Wissinger and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2003-01-01 with Medical categories.

The objective of this publication is to enhance mutual understanding and communication between ophthalmologists, molecular geneticists, genetic counselors and biomedical researchers. In the introductory chapter, current genetic paradigms and experimental genetic approaches relevant to the nature of hereditary disorders are discussed. The following contribution on the epidemiology of hereditary ocular disorders provides an excellent reference to geneticists as well as clinicians. Myopia is presented as an example of a complex clinical phenotype where genes and environment interact. Further molecular ophthalmogenetic topics, such as corneal dystrophies, cataract, glaucoma, opticus neuropathy, non-syndromic and syndromic pigmentary retinopathies, defects of vitamin A metabolism and macular dystrophies including age-related macular degeneration, are investigated in depth. The volume concludes with a survey of color vision deficiencies, a discussion of animal models and gene therapy, and a useful description of technical devices supporting patients who are losing sight.

Annual Report

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Author : Cold Spring Harbor Laboratory
language : en
Publisher:
Release Date : 1985

Annual Report written by Cold Spring Harbor Laboratory and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1985 with Biology categories.

Index Medicus

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Author :
language : en
Publisher:
Release Date : 2004

Index Medicus written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2004 with Medicine categories.

Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.

Genetics Abstracts

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Author :
language : en
Publisher:
Release Date : 2001

Genetics Abstracts written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001 with Genetics categories.

Research Awards Index

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Author :
language : en
Publisher:
Release Date : 1982

Research Awards Index written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1982 with Medicine categories.

Science Citation Index

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Author :
language : en
Publisher:
Release Date : 1995

Science Citation Index written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1995 with Science categories.

Vols. for 1964- have guides and journal lists.

Genetic Disorders And The Fetus

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Author : Aubrey Milunsky
language : en
Publisher: John Wiley & Sons
Release Date : 2021-03-30

Genetic Disorders And The Fetus written by Aubrey Milunsky and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-03-30 with Science categories.

"The time is fast approaching when virtually all the culprit genes and their mutations for 7,000 rare monogenic disorders1 will be known. Thus far causal single genes and their mutations have been determined for 5,6732 genetic disorders, enabling pre-implantation genetic testing or prenatal genetic diagnosis. These advances using chromosomal microarrays, whole exome sequencing and even whole genome sequencing together with fetal imaging, and non-invasive prenatal testing, expand the era in which all couples have the option of avoiding or preventing having children with irreversible, irremediable, crippling, or lethal monogenic disorders. Primary care physicians, and those in all medical specialties, will need to inform their patients of this key option. This imperative is already partly in current practice. Missing is the requirement of physicians to request and obtain the precise name of the genetic disorder in question or an existing DNA report on a family member, for prospective parents to benefit from available options"--

Pathogenomics Of The Genus Brucella And Beyond

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Author : Axel Cloeckaert
language : en
Publisher: Frontiers Media SA
Release Date : 2021-09-13

Pathogenomics Of The Genus Brucella And Beyond written by Axel Cloeckaert and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-09-13 with Science categories.

Cumulated Index Medicus

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Author :
language : en
Publisher:
Release Date : 2000

Cumulated Index Medicus written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Medicine categories.