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Showing results (811-820 of 885) with videos related to

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American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Journal of Medical Genetics|March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, et al.
American Journal of Human Genetics|June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndromeLekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.
Nature Genetics|May 1, 2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen, Jamie M Kramer, Kornelia Neveling, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrumMuriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, et al.
Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.
JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Pageof 89

Showing results (811-820 of 885) with videos related to

Sort By:
Pageof 89
American Journal of Medical Genetics. Part A|April 8, 2015
Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature reviewLaïla El Khattabi, Sylvie Jaillard, Joris Andrieux, et al.
Journal of Medical Genetics|March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, et al.
American Journal of Human Genetics|June 15, 2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndromeLekbir Baala, Sophie Audollent, Jéléna Martinovic, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|October 24, 2024
<i>MYH7</i>-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohortMarie Bahout, Gianmarco Severa, Emna Kamoun, et al.
Nature Genetics|May 1, 2012
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndromeDavid A Koolen, Jamie M Kramer, Kornelia Neveling, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Duplication of 10q24 locus: broadening the clinical and radiological spectrumMuriel Holder-Espinasse, Aleksander Jamsheer, Fabienne Escande, et al.
Human Mutation|January 15, 2004
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato, Soma Das, Kristin Petras, et al.
JAMA Neurology|February 27, 2018
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia GenesMarie Coutelier, Monia B Hammer, Giovanni Stevanin, et al.
Prenatal Diagnosis|March 11, 2015
Severe X-linked chondrodysplasia punctata in nine new female fetusesMathilde Lefebvre, Fabienne Dufernez, Ange-Line Bruel, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Pageof 89