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Genome Medicine|July 19, 2022
Recommendations for clinical interpretation of variants found in non-coding regions of the genomeJamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, et al.Journal of Medical Genetics|October 28, 2017
Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotypeAnge-Line Bruel, Stefania Bigoni, Joanna Kennedy, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classificationJoana R Chora, Michael A Iacocca, Lukáš Tichý, et al.Clinical Journal of the American Society of Nephrology : CJASN|December 21, 2021
Guidelines for Genetic Testing and Management of Alport SyndromeJudy Savige, Beata S Lipska-Zietkiewicz, Elizabeth Watson, et al.European Journal of Human Genetics : EJHG|April 15, 2021
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteriaJudy Savige, Helen Storey, Elizabeth Watson, et al.American Journal of Human Genetics|May 19, 2021
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8Ilse Van Gucht, Josephina A N Meester, Jotte Rodrigues Bento, et al.American Journal of Human Genetics|April 28, 2021
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismMaya Chopra, Meriel McEntagart, Jill Clayton-Smith, et al.Pageof 5