Showing results (4441-4450 of 5,829) with videos related to

Sort By:
Pageof 583
Human Mutation|July 27, 2017
Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophyKarine Nguyen, Francesca Puppo, Stéphane Roche, et al.
Human Mutation|February 23, 2016
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA MutationsNatasha G Caminsky, Eliseos J Mucaki, Ami M Perri, et al.
Human Mutation|December 15, 2015
ADIPOR1 Is Mutated in Syndromic Retinitis PigmentosaMingchu Xu, Aiden Eblimit, Jing Wang, et al.
Human Mutation|July 15, 2022
Human Mutation special issue on "Variant Effect Prediction"Andreas Laner, Ales Maver, Johan T den Dunnen
Human Mutation|July 17, 2022
Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patientMari Minatogawa, Takuya Hirose, Shuji Mizumoto, et al.
Human Mutation|July 17, 2022
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensusRima Slim, Rosemary Fisher, Florian Milhavet, et al.
Human Mutation|July 29, 2022
De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorderBeau D E Janssen, Marie-Jose H van den Boogaard, Klaske Lichtenbelt, et al.
Human Mutation|June 21, 2018
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohortJosephina A N Meester, Maja Sukalo, Kim C Schröder, et al.
Human Mutation|June 24, 2018
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channelConcetta Altamura, Sabrina Lucchiari, Dalila Sahbani, et al.
Human Mutation|September 12, 2018
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein bindingLeslie J Burke, Jan Sevcik, Gaetana Gambino, et al.
Pageof 583