Atlas of X-Linked Intellectual Disability Syndromes PDF Download
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Author: Roger E. Stevenson Publisher: Oxford University Press ISBN: 0199811792 Category : Medical Languages : en Pages : 363
Book Description
The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Author: Roger E. Stevenson Publisher: Oxford University Press ISBN: 0199811792 Category : Medical Languages : en Pages : 363
Book Description
The Atlas of Intellectual Disability Syndromes presents a concise description of 150 clinically distinctive syndromes caused by genes on the X chromosome. Each entry includes photographs and a differential matrix of similar syndromes. Appendices identify syndromes with common features and provide the location or mapping limits and function of responsible genes.
Author: Charles R. Scriver Publisher: New York ; Montreal : McGraw-Hill ISBN: 9780071363198 Category : Genetic disorders Languages : en Pages : 6338
Book Description
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Author: Drew Provan Publisher: John Wiley & Sons ISBN: 1394180470 Category : Medical Languages : en Pages : 452
Book Description
Provides a core knowledgebase for those with minimal exposure to hematologic molecular biology, fully revised and updated Molecular Hematology brings together the most up-to-date and reliable information on the molecular basis of major hematologic diseases. Edited and authored by leading experts in the field, this volume demonstrates the clinical relevance of molecular biology in the diagnosis and treatment of blood disorders. Concise, accessible chapters address key topics in modern hematology, such as lymphoma genetics, molecular coagulation, thrombophilia, pharmacogenomics, platelet disorders, hemophilia, anemia, and multiple myeloma. Chapters introduce and summarize specific hematologic diseases, explore the pathogenesis of the disorder, highlight new and emerging molecular strategies, and more. Now in its fifth edition, Molecular Hematology is fully revised to incorporate contemporary hematology research and practice. Entirely new chapters cover topics such as CAR-T cell technology, COVID, cancer cell biology, gene therapy and gene editing in clinical practice, as well as the impact of molecular research on the diagnosis and treatment of various malignant hematologic diseases. This edition includes updated suggested readings and a wealth of new full-color charts, graphs, and illustrations throughout. Covers the molecular biology of different blood diseases, their pathogeneses, and current molecular research and therapies Illustrates the impact of molecular research on hematologic investigations and therapeutics Discusses how progress in basic science and therapeutics has improved the diagnosis and care of patients with various hematologic disorders Surveys recent developments in cancer-cell biology, with an emphasis on leukemia and lymphoma Includes access to a companion Digital Edition providing search across the book, downloadable illustrations, and notation tools Molecular Hematology is a must-have resource for established and trainee clinicians, clinical scientists and researchers, medical students, and upper-level undergraduates in the fields of hematology, oncology, and molecular biology.
Author: Roland W. Herzog Publisher: World Scientific ISBN: 9814280917 Category : Medical Languages : en Pages : 415
Book Description
1. Non-viral gene therapy / Sean M. Sullivan -- 2. Adenoviral vectors / Stuart A. Nicklin and Andrew H. Baker -- 3. Retroviral vectors and integration analysis / Cynthia C. Bartholomae [und weitere] -- 4. Lentiviral vectors / Janka Matrai, Marinee K.L. Chuah and Thierry VandenDriessche -- 5. Herpes simplex virus vectors / William F. Goins [und weitere] -- 6. Adeno-Associated Viral (AAV) vectors / Nicholas Muzyczka -- 7. Regulatory RNA in gene therapy / Alfred. S. Lewin -- 8. DNA integrating vectors (Transposon, Integrase) / Lauren E. Woodard and Michele P. Calos -- 9. Homologous recombination and targeted gene modification for gene therapy / Matthew Porteus -- 10. Gene switches for pre-clinical studies in gene therapy / Caroline Le Guiner [und weitere] -- 11. Gene therapy for central nervous system disorders / Deborah Young and Patricia A. Lawlor -- 12. Gene therapy of hemoglobinopathies / Angela E. Rivers and Arun Srivastava -- 13. Gene therapy for primary immunodeficiencies / Aisha Sauer, Barbara Cassani and Alessandro Aiuti -- 14. Gene therapy for hemophilia / David Markusic, Babak Moghimi and Roland Herzog -- 15. Gene therapy for obesity and diabetes / Sergei Zolotukhin and Clive H. Wasserfall -- 16. Gene therapy for Duchenne muscular dystrophy / Takashi Okada and Shin'ichi Takeda -- 17. Cancer gene therapy / Kirsten A.K. Weigel-Van Aken -- 18. Gene therapy for autoimmune disorders / Daniel F. Gaddy, Melanie A. Ruffner and Paul D. Robbins -- 19. Gene therapy for inherited metabolic storage diseases / Cathryn Mah -- 20. Retinal diseases / Shannon E. Boye, Sanford L. Boye and William W. Hauswirth -- 21. A brief guide to gene therapy treatments for pulmonary diseases / Ashley T. Martino, Christian Mueller and Terence R. Flotte -- 22. Cardiovascular disease / Darin J. Falk, Cathryn S. Mah and Barry J. Byrne
Author: Dr. Steven R. Gundry Publisher: Harmony ISBN: 0307352129 Category : Health & Fitness Languages : en Pages : 306
Book Description
A renowned heart surgeon presents an accessible, research-based program to teach you how you can “reset” your genes to restore your health, lose weight, and extend your life. Does losing weight and staying healthy feel like a battle? Well, it’s really a war. Your enemies are your own genes, backed by millions of years of evolution, and the only way to win is to outsmart them. Dr. Steven Gundry’s revolutionary book shares the health secrets other doctors won’t tell you: • Why plants are “good” for you because they’re “bad” for you, and meat is “bad” because it’s “good” for you • Why plateauing on this diet is actually a sign that you’re on the right track • Why artificial sweeteners have the same effects as sugar on your health and your waistline • Why taking antacids, statins, and drugs for high blood pressure and arthritis masks health issues instead of addressing them Along with the meal planner, 70 delicious recipes, and inspirational stories, Dr. Gundry’s easy-to-memorize tips will keep you healthy and on course.
Author: Tabish Qidwai Publisher: Springer Nature ISBN: 9813347619 Category : Medical Languages : en Pages : 174
Book Description
This book is aimed to cover the role of genetic polymorphisms in human genes related to RBC disorders, metabolic enzymes, immune response, and cytoadherence in the susceptibility/resistance to malaria caused by Plasmodium falciparum. The chapters provide current information on the balancing trait and the significance of such traits in the malaria resistance. The book covers polymorphisms in the genes of the red blood cells-sickle cell anaemia; glucose-6-phosphate dehydrogenase deficiency and thalassemia that confer protection against malaria. In addition, the book explores selection of genetic variations in the human genome as genetic control mechanism against malaria in endemic regions. It also provides a comprehensive overview of the molecular epidemiology and natural selection of alleles in the genes which are associated with malaria, and presents description of the role of human genetic polymorphisms in malaria disease risk and disease outcome.
Author: Robert C. King Publisher: Springer ISBN: 9780306376115 Category : Science Languages : en Pages : 706
Book Description
The purpose of this and future volumes of the Handbook of Genetics is to bring together a collection of relatively short, authoritative essays or annotated compilations of data on topics of significance to geneticists. Many of the essays will deal with various aspects of the biology of certain species selected because they are favorite subjects for genetic investigation in nature or the laboratory. Often there will be an encyclopedic amount of information available on such a species, with new papers appearing daily. Most of these will be written for specialists in a jargon that is be wildering to a novice, and sometimes even to a veteran geneticist working with evolutionarily distant organisms. For such readers what is needed is a written introduction to the morphology, life cycle, reproductive be havior, and culture methods for the species in question. What are its par ticular advantages (and disadvantages) for genetic study, and what have we learned from it? Where are the classic papers, the key bibliographies, and how does one get stocks of wild type or mutant strains? The chapters devoted to different species will contain information of this sort. Only a few hundreds of the millions of species available to biologists have been subjected to detailed genetic study. However, those that have make up a very heterogeneous sample of the living world.
Author: Roger E. Stevenson
Author: Roger E. Stevenson
Author: Martin H. Steinberg
Author: Charles R. Scriver
Author: Bruce Alberts
Author: Drew Provan
Author: Roland W. Herzog
Author: Dr. Steven R. Gundry
Author: Tabish Qidwai
Author: Ikuhisa Sawada
Author: Robert C. King