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Bertrand Isidor

Showing results (141-150 of 365) with videos related to

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Neurobiology of Disease|May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channelsAffef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.
The EMBO Journal|May 19, 2021
Chromosomal instability by mutations in the novel minor spliceosome component CENATACBas de Wolf, Ali Oghabian, Maureen V Akinyi, et al.
Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 12, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorderFrédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
Calcified Tissue International|September 24, 2024
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 GeneMaxence Mancini, Roland Chapurlat, Bertrand Isidor, et al.
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
Pageof 37

Showing results (141-150 of 365) with videos related to

Sort By:
Pageof 37
Neurobiology of Disease|May 27, 2015
A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channelsAffef Abidi, Jérôme J Devaux, Florence Molinari, et al.
Journal of Medical Genetics|September 17, 2025
Heterozygous alterations of <i>GTF2I</i> at the Williams-Beuren syndrome's locus cause a neurodevelopmental disorderJeanne Jury, Thomas Besnard, Wallid Deb, et al.
The EMBO Journal|May 19, 2021
Chromosomal instability by mutations in the novel minor spliceosome component CENATACBas de Wolf, Ali Oghabian, Maureen V Akinyi, et al.
Brain : a Journal of Neurology|May 15, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet, Amir Boukhris, Alexandra Durr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 12, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorderFrédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, et al.
Annals of Neurology|January 3, 2025
Phenotype Spectrum of TRPM3-Associated DisordersLaura Jolitz, Ingo Helbig, Mark P Fitzgerald, et al.
Epilepsia|November 1, 2022
De novo KCNA6 variants with attenuated K<sub>V</sub> 1.6 channel deactivation in patients with epilepsyVincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, et al.
European Journal of Human Genetics : EJHG|July 15, 2018
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasiaCaroline Michot, Carine Le Goff, Edward Blair, et al.
Calcified Tissue International|September 24, 2024
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 GeneMaxence Mancini, Roland Chapurlat, Bertrand Isidor, et al.
Plos One|March 15, 2016
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Aritoshi Iida, Noriko Miyake, et al.
Pageof 37