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C Mignot

Showing results (21-30 of 37) with videos related to

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Neurology|July 25, 2007
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated familiesS Passemard, A Gelot, A Fogli, et al.
Clinical Genetics|January 7, 2011
Twenty-five novel mutations including duplications in the ATP7A geneM-P Moizard, N Ronce, S Blesson, et al.
Clinical Genetics|May 18, 2018
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorderJ Lévy, S Grotto, C Mignot, et al.
Molecular Syndromology|April 10, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsC Dubourg, F Bonnet-Brilhault, A Toutain, et al.
American Journal of Medical Genetics. Part A|July 3, 2003
Perinatal-lethal Gaucher diseaseC Mignot, A Gelot, B Bessières, et al.
Orphanet Journal of Rare Diseases|March 4, 2022
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patientsM Mouillé, M Rio, S Breton, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Diagnostic investigations for an unexplained developmental disability]A Verloes, D Héron, T Billette de Villemeur, et al.
Molecular Genetics and Metabolism|May 8, 2025
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlationA Donald, S Brothwell, B M Cabello, et al.
Clinical Genetics|July 4, 2015
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.
Journal of Internal Medicine|October 27, 2020
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56A Legrand, C Pujol, C M Durand, et al.
Pageof 4

Showing results (21-30 of 37) with videos related to

Sort By:
Pageof 4
Neurology|July 25, 2007
Progressive megalencephaly due to specific EIF2Bepsilon mutations in two unrelated familiesS Passemard, A Gelot, A Fogli, et al.
Clinical Genetics|January 7, 2011
Twenty-five novel mutations including duplications in the ATP7A geneM-P Moizard, N Ronce, S Blesson, et al.
Clinical Genetics|May 18, 2018
NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorderJ Lévy, S Grotto, C Mignot, et al.
Molecular Syndromology|April 10, 2014
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 DeletionsC Dubourg, F Bonnet-Brilhault, A Toutain, et al.
American Journal of Medical Genetics. Part A|July 3, 2003
Perinatal-lethal Gaucher diseaseC Mignot, A Gelot, B Bessières, et al.
Orphanet Journal of Rare Diseases|March 4, 2022
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patientsM Mouillé, M Rio, S Breton, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Diagnostic investigations for an unexplained developmental disability]A Verloes, D Héron, T Billette de Villemeur, et al.
Molecular Genetics and Metabolism|May 8, 2025
250 cases of "type 2 Gaucher disease": A novel system of clinical categorisation and evidence of genotype: Phenotype correlationA Donald, S Brothwell, B M Cabello, et al.
Clinical Genetics|July 4, 2015
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndromeS Dimassi, A Labalme, D Ville, et al.
Journal of Internal Medicine|October 27, 2020
Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56A Legrand, C Pujol, C M Durand, et al.
Pageof 4