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Jamel Chelly

Showing results (181-190 of 226) with videos related to

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Plos Genetics|February 6, 2013
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypesDawn E Watkins-Chow, Joanna Cooke, Ruth Pidsley, et al.
Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.
Plos Genetics|November 20, 2015
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical PhenotypesDawn E Watkins-Chow, Joanna Cooke, Ruth Pidsley, et al.
Plos One|February 27, 2016
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled PatientsAurore Curie, Amandine Brun, Anne Cheylus, et al.
Cell Reports|December 19, 2012
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalitiesMartin Breuss, Julian Ik-Tsen Heng, Karine Poirier, et al.
Nature Genetics|May 26, 2009
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyriaXavier Hubert Jaglin, Karine Poirier, Yoann Saillour, et al.
Human Mutation|April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebaseSylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
European Journal of Human Genetics : EJHG|August 1, 2013
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophyArjan P M de Brouwer, Sander B Nabuurs, Ingrid E C Verhaart, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
Pageof 23

Showing results (181-190 of 226) with videos related to

Sort By:
Pageof 23
Plos Genetics|February 6, 2013
Mutation of the diamond-blackfan anemia gene Rps7 in mouse results in morphological and neuroanatomical phenotypesDawn E Watkins-Chow, Joanna Cooke, Ruth Pidsley, et al.
Human Mutation|June 23, 2007
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)Karine Poirier, David A Keays, Fiona Francis, et al.
Plos Genetics|November 20, 2015
Correction: Mutation of the Diamond-Blackfan Anemia Gene Rps7 in Mouse Results in Morphological and Neuroanatomical PhenotypesDawn E Watkins-Chow, Joanna Cooke, Ruth Pidsley, et al.
Plos One|February 27, 2016
A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled PatientsAurore Curie, Amandine Brun, Anne Cheylus, et al.
Cell Reports|December 19, 2012
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalitiesMartin Breuss, Julian Ik-Tsen Heng, Karine Poirier, et al.
Nature Genetics|May 26, 2009
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyriaXavier Hubert Jaglin, Karine Poirier, Yoann Saillour, et al.
Human Mutation|April 16, 2009
Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebaseSylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, et al.
European Journal of Human Genetics : EJHG|August 1, 2013
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophyArjan P M de Brouwer, Sander B Nabuurs, Ingrid E C Verhaart, et al.
European Journal of Human Genetics : EJHG|November 6, 2008
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathyDorien Lugtenberg, Tjitske Kleefstra, Astrid R Oudakker, et al.
American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
Pageof 23