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Mark E Samuels

Showing results (41-50 of 56) with videos related to

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BMC Medical Genetics|December 20, 2014
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficienciesThierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, 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.
Nature Genetics|May 5, 2009
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemiaDuane L Guernsey, Haiyan Jiang, Dean R Campagna, et al.
Nature Genetics|March 2, 2011
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndromeDuane L Guernsey, Makoto Matsuoka, Haiyan Jiang, et al.
American Journal of Human Genetics|July 6, 2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4Duane L Guernsey, Haiyan Jiang, Julie Hussin, et al.
Nature Genetics|August 13, 2002
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathyJohane Robitaille, Marcia L E MacDonald, Ajamete Kaykas, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
Nature Genetics|December 3, 2003
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosisGeorge Papanikolaou, Mark E Samuels, Erwin H Ludwig, et al.
Plos Genetics|October 24, 2014
Germline mutations in MAP3K6 are associated with familial gastric cancerDaniel Gaston, Samantha Hansford, Carla Oliveira, et al.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Pageof 6

Showing results (41-50 of 56) with videos related to

Sort By:
Pageof 6
BMC Medical Genetics|December 20, 2014
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficienciesThierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, 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.
Nature Genetics|May 5, 2009
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemiaDuane L Guernsey, Haiyan Jiang, Dean R Campagna, et al.
Nature Genetics|March 2, 2011
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndromeDuane L Guernsey, Makoto Matsuoka, Haiyan Jiang, et al.
American Journal of Human Genetics|July 6, 2010
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4Duane L Guernsey, Haiyan Jiang, Julie Hussin, et al.
Nature Genetics|August 13, 2002
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathyJohane Robitaille, Marcia L E MacDonald, Ajamete Kaykas, et al.
American Journal of Human Genetics|June 7, 2014
FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery projectChandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, et al.
Nature Genetics|December 3, 2003
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosisGeorge Papanikolaou, Mark E Samuels, Erwin H Ludwig, et al.
Plos Genetics|October 24, 2014
Germline mutations in MAP3K6 are associated with familial gastric cancerDaniel Gaston, Samantha Hansford, Carla Oliveira, et al.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Pageof 6