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Brigitte Chabrol

Showing results (131-140 of 147) with videos related to

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Journal of Medical Genetics|July 13, 2013
Prevalence of rare mitochondrial DNA mutations in mitochondrial disordersSylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, et al.
Journal of Medical Genetics|March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.
European Heart Journal|March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry dataRaphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.
Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxiaHeba Morsy, Mehdi Benkirane, Elisa Cali, et al.
BMJ Open|October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in FranceCamille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Journal of Inherited Metabolic Disease|June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, et al.
Brain : a Journal of Neurology|February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
Pageof 15

Showing results (131-140 of 147) with videos related to

Sort By:
Pageof 15
Journal of Medical Genetics|July 13, 2013
Prevalence of rare mitochondrial DNA mutations in mitochondrial disordersSylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, et al.
Journal of Medical Genetics|March 19, 2021
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiencyAbdellah Tebani, Bénédicte Sudrié-Arnaud, Ivana Dabaj, et al.
European Heart Journal|March 22, 2021
Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry dataRaphaël Porcher, Isabelle Desguerre, Helge Amthor, et al.
Journal of Medical Genetics|September 29, 2017
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literatureManuel Schiff, Céline Roda, Marie-Lorraine Monin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2022
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxiaHeba Morsy, Mehdi Benkirane, Elisa Cali, et al.
BMJ Open|October 23, 2025
PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in FranceCamille Level, Christel Thauvin-Robinet, Christine Binquet, et al.
Orphanet Journal of Rare Diseases|October 17, 2015
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutationsSandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
Journal of Inherited Metabolic Disease|June 17, 2015
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentationStefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, et al.
Brain : a Journal of Neurology|February 5, 2010
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorderWilhelmina G Leen, Joerg Klepper, Marcel M Verbeek, et al.
Pageof 15