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Cell Reports|December 9, 2014
Human slack potassium channel mutations increase positive cooperativity between individual channelsGrace E Kim, Jack Kronengold, Giulia Barcia, et al.
RNA (New York, N.Y.)|June 6, 2025
Novel ADAR2 variants in children with seizures, intellectual disability, and motor delay have reduced RNA editingQiupei Du, Anna Cherian, Raymond J Louie, et al.
Neuromuscular Disorders : NMD|July 14, 2020
Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiencyGiulia Barcia, Sonia Khirani, Alessandro Amaddeo, et al.
Life (Basel, Switzerland)|February 25, 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCérane Cafournet, Sofia Zanin, Anne Guimier, et al.
American Journal of Medical Genetics. Part A|September 5, 2018
Distal duplication of chromosome 16q22.1q23.1 in a Vietnamese patient with midface hypoplasia and intellectual disabilityHuy Hoang Nguyen, Van Anh Pham, Giulia Barcia, et al.
European Journal of Human Genetics : EJHG|May 19, 2022
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1Maya Chopra, Richard Caswell, Giulia Barcia, et al.
European Journal of Human Genetics : EJHG|November 4, 2024
Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxiaBrian Sperelakis-Beedham, Cyril Gitiaux, Marine Rajaoba, et al.
Pediatric Nephrology (Berlin, Germany)|May 14, 2025
Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninismLuisa Marsili, Matthieu Mantecon, Christelle Arrondel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 11, 2020
A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disordersJulie Steffann, Sophie Monnot, Maryse Magen, et al.
Psychiatric Genetics|April 2, 2019
Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndromeCaroline Demily, Charlyne Duwime, Clémence Lopez, et al.
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