Highly Consanguineous Populations And Rare Genetic Diseases In Pediatrics
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Highly Consanguineous Populations And Rare Genetic Diseases In Pediatrics
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Author : Naglaa M. Kamal
language : en
Publisher: Frontiers Media SA
Release Date : 2022-12-29
Highly Consanguineous Populations And Rare Genetic Diseases In Pediatrics written by Naglaa M. Kamal 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 2022-12-29 with Science categories.
Practical Genetic Counselling
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Author : Peter Harper
language : en
Publisher: CRC Press
Release Date : 2010-08-27
Practical Genetic Counselling written by Peter Harper and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-08-27 with Medical categories.
Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical
Vogel And Motulsky S Human Genetics
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Author : Michael Speicher
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-11-26
Vogel And Motulsky S Human Genetics written by Michael Speicher and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-11-26 with Medical categories.
The fourth edition of this classical reference book can once again be relied upon to present a cohesive and up-to-date exposition of all aspects of human and medical genetics. Human genetics has become one of the main basic sciences in medicine, and molecular genetics is increasingly becoming a major part of this field. This new edition integrates a wealth of new information - mainly describing the influence of the "molecular revolution" - including the principles of epigenetic processes which together create the phenotype of a human being. Other revisions are an improved layout, sub-division into a larger number of chapters, as well as two-colour print throughout for ease of reference, and many of the figures are now in full colour. For graduates and those already working in medical genetics.
Genomics And Health In The Developing World
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Author : Dhavendra Kumar
language : en
Publisher: Oxford University Press
Release Date : 2012-05-11
Genomics And Health In The Developing World written by Dhavendra Kumar and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-05-11 with Medical categories.
Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.
Genetic Disorders Among Arab Populations
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Author : Ahmad S. Teebi
language : en
Publisher: Oxford University Press, USA
Release Date : 1997
Genetic Disorders Among Arab Populations written by Ahmad S. Teebi and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 1997 with Medical categories.
Few regions of the world have a more varied physiography or a richer ethnic, religious, social, and cultural mix than the Arab world. As a consequence, Arabs are genetically diverse despite their linguistic and religious cohesion. High but variable rates of inbreeding prevail in all Arab countries with numerous examples of isolates among them. These include some Bedouin groups, Nubians, Druze, Jews, and others. Arab populations have high frequencies of autosomal recessive disorders, homozygosity of autosomal dominant and X-linked traits, and a wealth of new syndromes and variants, the majority of which are autosomal recessive. Genetic disorders that cause major health problems include hemoglobinopathies, neurogenetic disorders, inherited metabolic diseases, and inborn error of morphogenesis. Because of their characteristically high prevalence, some of these disorders are considered markers for Arab populations. This book presents the unique profile of genetic disorders and variants in Arabs. In addition, it describes their unusual demographic pattern including fertility rates and other population dimensions, family structure, magnitude and effects of consanguineous marriages and indicators of health and disease. Genetic counseling and the distinctive cultural and religious attitudes towards various genetic issues are also presented. Disorders that have increased tribal occurrences or are limited to large kindreds, as well as small geographic or religious isolates, are highlighted to facilitate their recognition, study, and management.
Consanguinity In Context
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Author : Alan H. Bittles
language : en
Publisher: Cambridge University Press
Release Date : 2012-05-24
Consanguinity In Context written by Alan H. Bittles and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-05-24 with Family & Relationships categories.
An essential guide to the sensitive topic of cousin marriage, examining its social, medical, political and legal connotations.
The Genetics Of African Populations In Health And Disease
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Author : Muntaser E. Ibrahim
language : en
Publisher: Cambridge University Press
Release Date : 2019-12-19
The Genetics Of African Populations In Health And Disease written by Muntaser E. Ibrahim and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-12-19 with History categories.
A pioneering work that focuses on the unique diversity of African genetics, offering insights into human biology and genetic approaches.
Clinical Cardiogenetics
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Author : H.F. Baars
language : en
Publisher: Springer Science & Business Media
Release Date : 2010-12-25
Clinical Cardiogenetics written by H.F. Baars and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2010-12-25 with Medical categories.
Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
Mackenzie S Mission
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Author : Rachael Casella
language : en
Publisher: Allen & Unwin
Release Date : 2020-06-02
Mackenzie S Mission written by Rachael Casella and has been published by Allen & Unwin this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-02 with Biography & Autobiography categories.
A story of triumph over adversity, the strength that can be found in love and kindness, and the power of one couple to effect positive change in the world. 'A true love story' - Mia Freedman, founder of Mamamia Rachael and Jonathan were thrilled to welcome their baby Mackenzie into the world and to start their new lives as parents. Little did they know that in a few months they would be tested to endurance and beyond. Like many other couples starting a family, Rachael and Jonathan had no idea they were both carriers for a genetic disease, and that 1 in 20 babies are affected by genetic birth defects. Their daughter was one of those babies, and Mackenzie's Mission is Rachael's beautiful and heartwarming account of Mackenzie's life, child loss, and a journey through IVF. Determined that other couples should not go through the same heartbreak, Rachael and Jonathan are now champions for genetic testing. This is a story of triumph over adversity, the strength that can be found in kindness and the power of one couple to effect positive change in the world. 'Heartbreaking and inspiring. A must read for anyone who's lost a child, loved a child, or is desperately trying to for a child. You will cry but you will also find comfort in this incredible story.' - Erin Molan, sports presenter, Nine Network 'A book about grief and finding purpose through unimaginable loss and heartbreak. Beautiful Mackenzie will continue to have a powerful impact on this world through the work of her remarkable parents.' - Libby Trickett, Olympic swimming gold medallist and author of Beneath the Surface 'The most extraordinary story of a mother's love and her daughter's legacy.' - Marcia Leone, creator of Not So Mumsy
Pathology Of Bone And Joint Disorders Print And Online Bundle
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Author : Edward F. McCarthy
language : en
Publisher: Cambridge University Press
Release Date : 2014-11-20
Pathology Of Bone And Joint Disorders Print And Online Bundle written by Edward F. McCarthy and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014-11-20 with Medical categories.
Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.