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Judith Melki

Showing results (61-70 of 79) with videos related to

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Hepatology (Baltimore, Md.)|March 27, 2019
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13Bianca E Russell, Kaitlin G Whaley, Kevin E Bove, 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.
Plos One|April 18, 2012
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALSFrank P Diekstra, Christiaan G J Saris, Wouter van Rheenen, et al.
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Human Molecular Genetics|November 16, 2013
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosisAn Goris, Jessica van Setten, Frank Diekstra, et al.
Annals of Neurology|June 17, 2014
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysisFrank P Diekstra, Vivianna M Van Deerlin, John C van Swieten, et al.
The Lancet. Neurology|August 31, 2010
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association studyAleksey Shatunov, Kin Mok, Stephen Newhouse, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
JAMA Neurology|June 1, 2016
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral SclerosisIsabella Fogh, Kuang Lin, Cinzia Tiloca, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 20, 2009
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosisJohn E Landers, Judith Melki, Vincent Meininger, et al.
Pageof 8

Showing results (61-70 of 79) with videos related to

Sort By:
Pageof 8
Hepatology (Baltimore, Md.)|March 27, 2019
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13Bianca E Russell, Kaitlin G Whaley, Kevin E Bove, 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.
Plos One|April 18, 2012
Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALSFrank P Diekstra, Christiaan G J Saris, Wouter van Rheenen, et al.
European Journal of Human Genetics : EJHG|February 20, 2009
A large-scale mutation search reveals genetic heterogeneity in 3M syndromeCéline Huber, Anee-Lise Delezoide, Fabien Guimiot, et al.
Human Molecular Genetics|November 16, 2013
No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosisAn Goris, Jessica van Setten, Frank Diekstra, et al.
Annals of Neurology|June 17, 2014
C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysisFrank P Diekstra, Vivianna M Van Deerlin, John C van Swieten, et al.
The Lancet. Neurology|August 31, 2010
Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association studyAleksey Shatunov, Kin Mok, Stephen Newhouse, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
JAMA Neurology|June 1, 2016
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral SclerosisIsabella Fogh, Kuang Lin, Cinzia Tiloca, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 20, 2009
Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosisJohn E Landers, Judith Melki, Vincent Meininger, et al.
Pageof 8