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Showing results (451-460 of 509) with videos related to

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Journal of Medical Genetics|September 27, 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, et al.
Journal of Medical Genetics|May 21, 2013
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephalyJosé-Mario Capo-Chichi, Joseph Tcherkezian, Fadi F Hamdan, et al.
Journal of Medical Genetics|February 21, 2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaMark E Samuels, Jacek Majewski, Najmeh Alirezaie, et al.
American Journal of Human Genetics|October 19, 2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentFadi F Hamdan, Hussein Daoud, Daniel Rochefort, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.
Human Genetics|March 23, 2011
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaJulie Gauthier, Tabrez J Siddiqui, Peng Huashan, et al.
Plos Genetics|October 3, 2013
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humansFerran Casals, Alan Hodgkinson, Julie Hussin, et al.
Translational Psychiatry|July 27, 2012
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophreniaJ Tarabeux, O Kebir, J Gauthier, et al.
Diabetes|June 29, 2004
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneityValérie Senée, Krishna M Vattem, Marc Delépine, et al.
Pageof 51

Showing results (451-460 of 509) with videos related to

Sort By:
Pageof 51
Journal of Medical Genetics|September 27, 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, et al.
Journal of Medical Genetics|May 21, 2013
Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephalyJosé-Mario Capo-Chichi, Joseph Tcherkezian, Fadi F Hamdan, et al.
Journal of Medical Genetics|February 21, 2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaMark E Samuels, Jacek Majewski, Najmeh Alirezaie, et al.
American Journal of Human Genetics|October 19, 2010
De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairmentFadi F Hamdan, Hussein Daoud, Daniel Rochefort, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.
Human Genetics|March 23, 2011
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophreniaJulie Gauthier, Tabrez J Siddiqui, Peng Huashan, et al.
Plos Genetics|October 3, 2013
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humansFerran Casals, Alan Hodgkinson, Julie Hussin, et al.
Translational Psychiatry|July 27, 2012
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophreniaJ Tarabeux, O Kebir, J Gauthier, et al.
Diabetes|June 29, 2004
Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneityValérie Senée, Krishna M Vattem, Marc Delépine, et al.
Pageof 51