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Kévin Uguen

Showing results (1-10 of 7) with videos related to

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Pediatric Neurology|July 9, 2022
MECP2 Dysautonomia Phenotypes in BoysLisa Courgeon, Kévin Uguen, Jérémie Lefranc, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 3, 2024
Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin diseaseRim Debbiche, Ahmad Elbahnsi, Kévin Uguen, et al.
Blood Cells, Molecules & Diseases|December 20, 2020
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypesMarlène Le Tertre, Chandran Ka, Loann Raud, et al.
Clinical Genetics|June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyKévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Pediatric Neurology|July 9, 2022
MECP2 Dysautonomia Phenotypes in BoysLisa Courgeon, Kévin Uguen, Jérémie Lefranc, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|July 3, 2024
Insights into the role of glycerophospholipids on the iron export function of SLC40A1 and the molecular mechanisms of ferroportin diseaseRim Debbiche, Ahmad Elbahnsi, Kévin Uguen, et al.
Blood Cells, Molecules & Diseases|December 20, 2020
Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypesMarlène Le Tertre, Chandran Ka, Loann Raud, et al.
Clinical Genetics|June 24, 2021
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephalyKévin Uguen, Kilannin Krysiak, Séverine Audebert-Bellanger, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2019
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomaliesMichael D Fountain, David S Oleson, Megan E Rech, et al.
American Journal of Human Genetics|March 5, 2019
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual DisabilityBenjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, et al.
Pageof 1