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Endocrinology|September 27, 2008
Developmental and diurnal dynamics of Pax4 expression in the mammalian pineal gland: nocturnal down-regulation is mediated by adrenergic-cyclic adenosine 3',5'-monophosphate signalingMartin F Rath, Michael J Bailey, Jong-So Kim, et al.Journal of Medical Genetics|September 16, 2022
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterationsLaëtitia Meulemans, Stéphanie Baert Desurmont, Marie-Christine Waill, et al.BMC Evolutionary Biology|May 27, 2010
Evolution of AANAT: expansion of the gene family in the cephalochordate amphioxusJiri Pavlicek, Sandrine Sauzet, Laurence Besseau, et al.Journal of Medical Genetics|August 6, 2010
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAPArnaud Lagarde, Etienne Rouleau, Anthony Ferrari, et al.Human Mutation|January 7, 2021
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinismCécile Saint-Martin, Marine Cauchois-Le Mière, Emily Rex, et al.Journal of Alzheimer'S Disease : JAD|February 27, 2018
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease PatientKilan Le Guennec, Hélène Tubeuf, Didier Hannequin, et al.European Journal of Human Genetics : EJHG|June 16, 2011
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genesJean Christophe Théry, Sophie Krieger, Pascaline Gaildrat, et al.Human Mutation|January 24, 2015
Identification of variants in the 4q35 gene FAT1 in patients with a facioscapulohumeral dystrophy-like phenotypeFrancesca Puppo, Eugenie Dionnet, Marie-Cécile Gaillard, et al.Molecular Genetics & Genomic Medicine|July 19, 2017
Clinical and molecular characterization of cystinuria in a French cohort: relevance of assessing large-scale rearrangements and splicing variantsPascaline Gaildrat, Said Lebbah, Abdellah Tebani, et al.European Journal of Human Genetics : EJHG|June 8, 2022
Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working GroupMonika Morak, Marta Pineda, Alexandra Martins, et al.Pageof 4