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Jamel Chelly

Showing results (171-180 of 226) with videos related to

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Archives of Neurology|August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severityYoann Saillour, Nathalie Carion, Chloé Quelin, et al.
Nature Communications|May 16, 2019
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesisEkaterina L Ivanova, Johan G Gilet, Vadym Sulimenko, et al.
Human Molecular Genetics|December 22, 2017
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesisJuliette Piard, Jia-Hua Hu, Philippe M Campeau, et al.
Nature Neuroscience|May 27, 2014
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and humanMichel Kielar, Françoise Phan Dinh Tuy, Sara Bizzotto, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, et al.
Prenatal Diagnosis|November 19, 2016
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic featuresMarguerite Miguet, Julien Thevenon, Vincent Laugel, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingJuliette Nectoux, Rafael de Cid, Sylvain Baulande, et al.
Journal of Neurology|March 5, 2021
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohortSolveig Montaut, Nadège Diedhiou, Pauline Fahrer, et al.
American Journal of Human Genetics|December 31, 2005
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationDorien Lugtenberg, Helger G Yntema, Martijn J G Banning, et al.
Pageof 23

Showing results (171-180 of 226) with videos related to

Sort By:
Pageof 23
Archives of Neurology|August 12, 2009
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severityYoann Saillour, Nathalie Carion, Chloé Quelin, et al.
Nature Communications|May 16, 2019
TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesisEkaterina L Ivanova, Johan G Gilet, Vadym Sulimenko, et al.
Human Molecular Genetics|December 22, 2017
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesisJuliette Piard, Jia-Hua Hu, Philippe M Campeau, et al.
Nature Neuroscience|May 27, 2014
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and humanMichel Kielar, Françoise Phan Dinh Tuy, Sara Bizzotto, et al.
European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.
American Journal of Human Genetics|February 18, 2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyMaila Giannandrea, Veronica Bianchi, Maria Lidia Mignogna, et al.
Prenatal Diagnosis|November 19, 2016
Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic featuresMarguerite Miguet, Julien Thevenon, Vincent Laugel, et al.
European Journal of Human Genetics : EJHG|October 30, 2014
Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencingJuliette Nectoux, Rafael de Cid, Sylvain Baulande, et al.
Journal of Neurology|March 5, 2021
Biallelic RFC1-expansion in a French multicentric sporadic ataxia cohortSolveig Montaut, Nadège Diedhiou, Pauline Fahrer, et al.
American Journal of Human Genetics|December 31, 2005
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardationDorien Lugtenberg, Helger G Yntema, Martijn J G Banning, et al.
Pageof 23