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The top documents tagged [pathogenic mutations]
1 Chapter 50 Molecular Basis of Prion Diseases Copyright © 2012, American Society for Neurochemistry. Published by Elsevier Inc. All rights reserved
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Does UNHS Identify All Children with GJB2 (Connexin 26) Deafness? Presented by Wendy D. Hanks, Ph.D. Gallaudet University
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Genetics Technology: Next Generation Sequencing in Clinical Practice Dr Yvonne Wallis FRCPath Principal Clinical Scientist Head of Familial Cancer Services
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Cystic fibrosis
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Mitochondrial Disorders in the Nervous System
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Alzheimer 2014 Poro amiloide
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Algo nuevo, algo viejo y algo prestado en alzheimer 2014 jparodi
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Jason Klein, M.D. Fellow, Pediatric Endocrinology Fellows Journal Club, CCMC Of Mice and Men and MCM4: A Novel Cause of Multisystem Dysfunction
216 views
Diagnostic Testing for Familial Pancreatitis Emma McCarthy Clinical Scientist Merseyside & Cheshire Regional Molecular Genetics Laboratory
221 views
Diamond-Blackfan Anemia Gene Discovery Hanna T. Gazda, M.D., Ph.D. Boston Children’s Hospital Harvard Medical School Boston, MA
216 views
Phenotypic consequences of specific mutations in human MLH1 Sierra Spencer Dr. Andrew Buermeyer Department of Environmental and Molecular Toxicology Oregon
217 views
Hereditary Breast and Ovarian Cancer Syndrome Developed by Dr. Judith Allanson, Ms. Shawna Morrison and Dr. June Carroll Last updated November 2015
216 views
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