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Mark E Samuels

Showing results (31-40 of 56) with videos related to

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Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.
Human Mutation|October 4, 2012
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndromeJosé-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A Sommers, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.
Journal of Medical Genetics|February 5, 2015
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduriaJosé-Mario Capo-Chichi, Sarah Boissel, Edna Brustein, et al.
The Journal of Clinical Endocrinology and Metabolism|January 8, 2013
Bioinactive ACTH causing glucocorticoid deficiencyMark E Samuels, Nicole Gallo-Payet, Sandra Pinard, 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.
Human Genetics|June 25, 2013
A novel rearrangement of occludin causes brain calcification and renal dysfunctionMarissa A LeBlanc, Lynette S Penney, Daniel Gaston, 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.
Molecular Vision|August 19, 2011
Mutations in a novel serine protease PRSS56 in families with nanophthalmosAndrew Orr, Marie-Pierre Dubé, Juan C Zenteno, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Pageof 6

Showing results (31-40 of 56) with videos related to

Sort By:
Pageof 6
Human Mutation|June 18, 2011
Mutations in NOTCH2 in families with Hajdu-Cheney syndromeJacek Majewski, Jeremy A Schwartzentruber, Aurore Caqueret, et al.
Human Mutation|October 4, 2012
Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndromeJosé-Mario Capo-Chichi, Sanjay Kumar Bharti, Joshua A Sommers, et al.
European Journal of Human Genetics : EJHG|November 20, 2014
A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndromeJulie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F Hamdan, et al.
Journal of Medical Genetics|February 5, 2015
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduriaJosé-Mario Capo-Chichi, Sarah Boissel, Edna Brustein, et al.
The Journal of Clinical Endocrinology and Metabolism|January 8, 2013
Bioinactive ACTH causing glucocorticoid deficiencyMark E Samuels, Nicole Gallo-Payet, Sandra Pinard, 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.
Human Genetics|June 25, 2013
A novel rearrangement of occludin causes brain calcification and renal dysfunctionMarissa A LeBlanc, Lynette S Penney, Daniel Gaston, 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.
Molecular Vision|August 19, 2011
Mutations in a novel serine protease PRSS56 in families with nanophthalmosAndrew Orr, Marie-Pierre Dubé, Juan C Zenteno, et al.
Human Mutation|August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndromeJeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
Pageof 6