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European Journal of Human Genetics : EJHG|July 9, 2024
Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databasesKevin Uguen, Jacques L Michaud, Emmanuelle GéninFASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|November 7, 2019
Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4AJulie Guellec, Ahmad Elbahnsi, Marlene Le Tertre, et al.FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 11, 2025
Identification of New Key Players for Ferrous Iron Export in the Asymmetric Inner Gate of Human Ferroportin 1Marlène Le Tertre, Ahmad Elbahnsi, Cécile Ged, et al.Human Mutation|April 14, 2025
The Spectra of Disease-Causing Mutations in the Ferroportin 1 (<i>SLC40A1</i>) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)Kevin Uguen, Chandran Ka, Gwenaelle Collod-Béroud, et al.HGG Advances|July 23, 2024
The dual loss and gain of function of the FPN1 iron exporter results in the ferroportin disease phenotypeKevin Uguen, Marlène Le Tertre, Dimitri Tchernitchko, et al.American Journal of Medical Genetics. Part A|January 9, 2024
An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variationKevin Uguen, Sylvia Redon, Karen Rouault, et al.Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|May 30, 2018
Primary sclerosing cholangitis is associated with abnormalities in CFTRSteven Werlin, Virginie Scotet, Kevin Uguen, et al.Clinical Genetics|December 28, 2022
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombinationJulie Masson, Céline Pebrel-Richard, Matthieu Egloff, et al.Journal of Medical Genetics|August 20, 2025
Resolving structural variations missed by short-read sequencing uncovers their pathogenicityCaroline Schluth-Bolard, Laïla El Khattabi, Pierre-Antoine Rollat-Farnier, et al.HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.Pageof 3