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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.
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.
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.
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.
European Journal of Human Genetics : EJHG|November 10, 2020
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survivalGiulia Barcia, Marlène Rio, Zahra Assouline, et al.
Mitochondrion|October 12, 2011
Toward genotype phenotype correlations in GFM1 mutationsLouise Galmiche, Valérie Serre, Marine Beinat, et al.
Haematologica|December 17, 2020
Biallelic IARS2 mutations presenting as sideroblastic anemiaGiulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, et al.
Journal of Medical Genetics|January 24, 2018
High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiencyIsaure de Beaurepaire, David Grévent, Marlène Rio, et al.
Molecular Genetics and Metabolism|August 14, 2025
Childhood POLG-related disorders: Focus on polyradiculoneuropathyClaire-Marine Bérat, Marie Hully, Agnès Rötig, et al.
American Journal of Human Genetics|July 5, 2016
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I DeficiencyLaura Sánchez-Caballero, Benedetta Ruzzenente, Lucas Bianchi, et al.
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