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
Documents 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
Documents Does UNHS Identify All Children with GJB2 (Connexin 26) Deafness? Presented by Wendy D. Hanks, Ph.D. Gallaudet University

216 views

Genetics Technology: Next Generation Sequencing in Clinical Practice Dr Yvonne Wallis FRCPath Principal Clinical Scientist Head of Familial Cancer Services
Documents 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
Documents Cystic fibrosis

2.289 views

Mitochondrial Disorders in the Nervous System
Documents Mitochondrial Disorders in the Nervous System

61 views

Alzheimer 2014 Poro amiloide
Documents Alzheimer 2014 Poro amiloide

74 views

Algo nuevo, algo viejo y algo prestado en alzheimer 2014 jparodi
Health & Medicine Algo nuevo, algo viejo y algo prestado en alzheimer 2014 jparodi

63 views

Jason Klein, M.D. Fellow, Pediatric Endocrinology Fellows Journal Club, CCMC Of Mice and Men and MCM4: A Novel Cause of Multisystem Dysfunction
Documents Jason Klein, M.D. Fellow, Pediatric Endocrinology Fellows Journal Club, CCMC Of Mice and Men and MCM4: A Novel Cause of Multisystem Dysfunction

218 views

Diagnostic Testing for Familial Pancreatitis Emma McCarthy Clinical Scientist Merseyside & Cheshire Regional Molecular Genetics Laboratory
Documents 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
Documents Diamond-Blackfan Anemia Gene Discovery Hanna T. Gazda, M.D., Ph.D. Boston Children’s Hospital Harvard Medical School Boston, MA

218 views

Phenotypic consequences of specific mutations in human MLH1 Sierra Spencer Dr. Andrew Buermeyer Department of Environmental and Molecular Toxicology Oregon
Documents Phenotypic consequences of specific mutations in human MLH1 Sierra Spencer Dr. Andrew Buermeyer Department of Environmental and Molecular Toxicology Oregon

219 views

Hereditary Breast and Ovarian Cancer Syndrome Developed by Dr. Judith Allanson, Ms. Shawna Morrison and Dr. June Carroll Last updated November 2015
Documents Hereditary Breast and Ovarian Cancer Syndrome Developed by Dr. Judith Allanson, Ms. Shawna Morrison and Dr. June Carroll Last updated November 2015

218 views