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Brigitte Chabrol

Showing results (91-100 of 147) with videos related to

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Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
Journal of Neurology|March 22, 2024
Phenotype variability and natural history of X-linked myopathy with excessive autophagyGorka Fernández-Eulate, Girolamo Alfieri, Marco Spinazzi, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 27, 2026
Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole familyElise Yazbeck, Magalie Barth, Audrey Boyer, et al.
The Lancet. Child & Adolescent Health|November 25, 2021
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe ConsortiumImke Anne Maartje Ditters, Hidde Harmen Huidekoper, Michelle Elisabeth Kruijshaar, et al.
European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Journal of Inherited Metabolic Disease|December 23, 2015
Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
Journal of Inherited Metabolic Disease|December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
American Journal of Human Genetics|December 4, 2014
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndromeEstelle Colin, Evelyne Huynh Cong, Géraldine Mollet, et al.
Orphanet Journal of Rare Diseases|March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history studyBernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Pageof 15

Showing results (91-100 of 147) with videos related to

Sort By:
Pageof 15
Movement Disorders : Official Journal of the Movement Disorder Society|August 22, 2023
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset PhenotypesChloé Angelini, Christelle Marie Durand, Patricia Fergelot, et al.
Journal of Neurology|March 22, 2024
Phenotype variability and natural history of X-linked myopathy with excessive autophagyGorka Fernández-Eulate, Girolamo Alfieri, Marco Spinazzi, et al.
European Journal of Human Genetics : EJHG|April 1, 2004
Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European familiesLouis Viollet, Mohammed Zarhrate, Isabelle Maystadt, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|February 27, 2026
Metachromatic leukodystrophy (MLD) in France: the views of family caregivers on the diagnosis of the disease, its daily burden on their child, and the whole familyElise Yazbeck, Magalie Barth, Audrey Boyer, et al.
The Lancet. Child & Adolescent Health|November 25, 2021
Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe ConsortiumImke Anne Maartje Ditters, Hidde Harmen Huidekoper, Michelle Elisabeth Kruijshaar, et al.
European Journal of Human Genetics : EJHG|August 8, 2013
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohortCécile Rouzier, Annabelle Chaussenot, Valérie Serre, et al.
Journal of Inherited Metabolic Disease|December 23, 2015
Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
Journal of Inherited Metabolic Disease|December 14, 2017
Correction to: Impact of age at onset and newborn screening on outcome in organic aciduriasJana Heringer, Vassili Valayannopoulos, Allan M Lund, et al.
American Journal of Human Genetics|December 4, 2014
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndromeEstelle Colin, Evelyne Huynh Cong, Géraldine Mollet, et al.
Orphanet Journal of Rare Diseases|March 10, 2026
Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history studyBernd C Schwahn, Gerard T Berry, Hilary J Vernon, et al.
Pageof 15