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Jamel Chelly

Showing results (131-140 of 226) with videos related to

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Human Molecular Genetics|April 17, 2018
A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterationsAline Dubos, Hamid Meziane, Giovanni Iacono, et al.
Nature Communications|May 18, 2022
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical developmentDelfina M Romero, Karine Poirier, Richard Belvindrah, et al.
Acta Neuropathologica|April 25, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseasesNasim Vasli, Johann Böhm, Stéphanie Le Gras, et al.
American Journal of Human Genetics|May 27, 2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationKristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, et al.
Neurogenetics|August 8, 2008
The location of DCX mutations predicts malformation severity in X-linked lissencephalyPierre-Louis Leger, Isabelle Souville, Nathalie Boddaert, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 1, 2020
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genesGabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin, et al.
Brain : a Journal of Neurology|September 16, 2008
Key clinical features to identify girls with CDKL5 mutationsNadia Bahi-Buisson, Juliette Nectoux, Haydeé Rosas-Vargas, et al.
Brain : a Journal of Neurology|February 1, 2013
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrumNadia Bahi-Buisson, Isabelle Souville, Franck J Fourniol, et al.
European Journal of Human Genetics : EJHG|January 24, 2013
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genesAurélie Vasson, Céline Leroux, Lucie Orhant, et al.
Plos Genetics|May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopiaErin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
Pageof 23

Showing results (131-140 of 226) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|April 17, 2018
A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterationsAline Dubos, Hamid Meziane, Giovanni Iacono, et al.
Nature Communications|May 18, 2022
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical developmentDelfina M Romero, Karine Poirier, Richard Belvindrah, et al.
Acta Neuropathologica|April 25, 2012
Next generation sequencing for molecular diagnosis of neuromuscular diseasesNasim Vasli, Johann Böhm, Stéphanie Le Gras, et al.
American Journal of Human Genetics|May 27, 2004
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationKristine Freude, Kirsten Hoffmann, Lars-Riff Jensen, et al.
Neurogenetics|August 8, 2008
The location of DCX mutations predicts malformation severity in X-linked lissencephalyPierre-Louis Leger, Isabelle Souville, Nathalie Boddaert, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 1, 2020
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genesGabrielle Rudolf, Julitta de Bellescize, Anne de Saint Martin, et al.
Brain : a Journal of Neurology|September 16, 2008
Key clinical features to identify girls with CDKL5 mutationsNadia Bahi-Buisson, Juliette Nectoux, Haydeé Rosas-Vargas, et al.
Brain : a Journal of Neurology|February 1, 2013
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrumNadia Bahi-Buisson, Isabelle Souville, Franck J Fourniol, et al.
European Journal of Human Genetics : EJHG|January 24, 2013
Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genesAurélie Vasson, Céline Leroux, Lucie Orhant, et al.
Plos Genetics|May 9, 2018
De novo and inherited private variants in MAP1B in periventricular nodular heterotopiaErin L Heinzen, Adam C O'Neill, Xiaolin Zhu, et al.
Pageof 23