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Catheline Vilain

Showing results (31-40 of 58) with videos related to

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Epilepsia|February 19, 2015
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysisCorinna Hartmann, Sarah von Spiczak, Arvid Suls, et al.
Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.
Human Molecular Genetics|October 7, 2021
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathyArthur Macha, Filip Liebsch, Steffen Fricke, et al.
Stem Cell Reports|November 17, 2023
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinasesMaha Al-Thani, Mary Goodwin-Trotman, Steven Bell, et al.
Orphanet Journal of Rare Diseases|June 11, 2021
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformationsPascal Brouillard, Matthieu J Schlögel, Nassim Homayun Sepehr, et al.
Human Molecular Genetics|February 6, 2015
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humansNina Dupuis, Assia Fafouri, Aurélien Bayot, et al.
Genome Medicine|July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disabilityClaudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 8, 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patientsMarie Le Roux, Magalie Barth, Sophie Gueden, et al.
Journal of Medical Genetics|June 29, 2022
Cancer risk and tumour spectrum in 172 patients with a germline <i>SUFU</i> pathogenic variation: a collaborative study of the SIOPE Host Genome Working GroupLéa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 6, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar AtaxiaRauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, et al.
Pageof 6

Showing results (31-40 of 58) with videos related to

Sort By:
Pageof 6
Epilepsia|February 19, 2015
Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysisCorinna Hartmann, Sarah von Spiczak, Arvid Suls, et al.
Journal of Medical Genetics|July 2, 2013
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactylyNicolas Simonis, Isabelle Migeotte, Nelle Lambert, et al.
Human Molecular Genetics|October 7, 2021
Biallelic gephyrin variants lead to impaired GABAergic inhibition in a patient with developmental and epileptic encephalopathyArthur Macha, Filip Liebsch, Steffen Fricke, et al.
Stem Cell Reports|November 17, 2023
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinasesMaha Al-Thani, Mary Goodwin-Trotman, Steven Bell, et al.
Orphanet Journal of Rare Diseases|June 11, 2021
Non-hotspot PIK3CA mutations are more frequent in CLOVES than in common or combined lymphatic malformationsPascal Brouillard, Matthieu J Schlögel, Nassim Homayun Sepehr, et al.
Human Molecular Genetics|February 6, 2015
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humansNina Dupuis, Assia Fafouri, Aurélien Bayot, et al.
Genome Medicine|July 21, 2017
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disabilityClaudio Reggiani, Sandra Coppens, Tayeb Sekhara, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 8, 2021
CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patientsMarie Le Roux, Magalie Barth, Sophie Gueden, et al.
Journal of Medical Genetics|June 29, 2022
Cancer risk and tumour spectrum in 172 patients with a germline <i>SUFU</i> pathogenic variation: a collaborative study of the SIOPE Host Genome Working GroupLéa Guerrini-Rousseau, Julien Masliah-Planchon, Sebastian M Waszak, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 6, 2024
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar AtaxiaRauan Kaiyrzhanov, Juan Darío Ortigoza-Escobar, Brett W Stringer, et al.
Pageof 6