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Scientific Reports|January 13, 2023
Classification of red cell dynamics with convolutional and recurrent neural networks: a sickle cell disease case studyMaxime Darrin, Ashwin Samudre, Maxime Sahun, et al.Nature Immunology|July 28, 2014
The SKIV2L RNA exosome limits activation of the RIG-I-like receptorsSterling C Eckard, Gillian I Rice, Alexandre Fabre, et al.Annales De Biologie Clinique|July 24, 2010
[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies]Patricia Aguilar-Martinez, Catherine Badens, Nathalie Bonello-Palot, et al.Cells|January 11, 2022
A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell SenescenceAlice-Anaïs Varlet, Camille Desgrouas, Cécile Jebane, et al.Journal of Medical Genetics|February 26, 2025
Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal deathCamille Desgrouas, Igor Deryabin, Clémence Duvillier, et al.Scientific Reports|May 7, 2025
A novel red blood cell deformability biomarker is associated with hemolysis and vaso-occlusive crises in sickle cell diseaseMaxime Sahun, Emmanuelle Bernit, Scott Atwell, et al.Journal of Pediatric Gastroenterology and Nutrition|March 27, 2009
Exclusion of EGFR, HRAS, DSP, JUP, CTNNB1, PLEC1, and EPPK1 as functional candidate genes in 7 families with syndromic diarrhoeaAlexandre Fabre, Bertrand Roquelaure, Caroline Lacoste, et al.European Journal of Human Genetics : EJHG|June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndromeBernard Thienpont, Thomy de Ravel, Hilde Van Esch, et al.Cells|February 5, 2020
Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical PitfallsCamille Desgrouas, Alice-Anaïs Varlet, Anne Dutour, et al.Human Molecular Genetics|July 5, 2011
High prevalence of laminopathies among patients with metabolic syndromeAnne Dutour, Patrice Roll, Bénédicte Gaborit, et al.Pageof 9