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Catheline Vilain

Showing results (21-30 of 58) with videos related to

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Human Molecular Genetics|September 5, 2013
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic strokeLydia S Murray, Yinhui Lu, Aislynn Taggart, et al.
The Journal of Clinical Endocrinology and Metabolism|September 10, 2004
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroidLaurent Meeus, Brigitte Gilbert, Catherine Rydlewski, et al.
Pediatric Dermatology|March 19, 2022
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndromeDeborah Salik, Smail Hadj-Rabia, Daniel Hohl, et al.
American Journal of Medical Genetics. Part A|August 19, 2020
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3Lionel Paternoster, Julie Soblet, Alec Aeby, et al.
American Journal of Medical Genetics. Part A|September 30, 2017
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systemsJulie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, et al.
Clinical Case Reports|December 17, 2021
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN geneClaire Balza, Giulia Garofalo, Teresa Cos, et al.
Human Genetics|October 27, 2023
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)Edoardo Giuili, Robin Grolaux, Catarina Z N M Macedo, et al.
Neuromuscular Disorders : NMD|April 10, 2023
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathologyHazim Kadhim, Eliane El-Howayek, Sandra Coppens, et al.
American Journal of Medical Genetics. Part A|May 29, 2024
A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signalSebastian Neuens, Maiza Kausar, Sun-Kyoung Kang, et al.
Autism Research : Official Journal of the International Society for Autism Research|June 10, 2014
A familial heterozygous null mutation of MET in autism spectrum disorderNelle Lambert, Vanessa Wermenbol, Bruno Pichon, et al.
Pageof 6

Showing results (21-30 of 58) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|September 5, 2013
Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic strokeLydia S Murray, Yinhui Lu, Aislynn Taggart, et al.
The Journal of Clinical Endocrinology and Metabolism|September 10, 2004
Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroidLaurent Meeus, Brigitte Gilbert, Catherine Rydlewski, et al.
Pediatric Dermatology|March 19, 2022
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndromeDeborah Salik, Smail Hadj-Rabia, Daniel Hohl, et al.
American Journal of Medical Genetics. Part A|August 19, 2020
Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3Lionel Paternoster, Julie Soblet, Alec Aeby, et al.
American Journal of Medical Genetics. Part A|September 30, 2017
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systemsJulie Soblet, Ivan Dimov, Clemens Graf von Kalckreuth, et al.
Clinical Case Reports|December 17, 2021
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN geneClaire Balza, Giulia Garofalo, Teresa Cos, et al.
Human Genetics|October 27, 2023
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)Edoardo Giuili, Robin Grolaux, Catarina Z N M Macedo, et al.
Neuromuscular Disorders : NMD|April 10, 2023
A pathogenic CTBP1 variant featuring HADDTS with dystrophic myopathologyHazim Kadhim, Eliane El-Howayek, Sandra Coppens, et al.
American Journal of Medical Genetics. Part A|May 29, 2024
A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signalSebastian Neuens, Maiza Kausar, Sun-Kyoung Kang, et al.
Autism Research : Official Journal of the International Society for Autism Research|June 10, 2014
A familial heterozygous null mutation of MET in autism spectrum disorderNelle Lambert, Vanessa Wermenbol, Bruno Pichon, et al.
Pageof 6