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Stanley H Korman

Showing results (11-20 of 40) with videos related to

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Journal of Human Genetics|May 3, 2005
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in JerusalemAvihu Boneh, Stanley H Korman, Kenichi Sato, et al.
Molecular Genetics and Metabolism|August 22, 2006
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiencyStanley H Korman, James J Pitt, Avihu Boneh, et al.
Journal of Human Genetics|May 31, 2007
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees CAvraham Zeharia, Merel S Ebberink, Ronald J A Wanders, et al.
Annals of Neurology|July 6, 2004
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutationStanley H Korman, Avihu Boneh, Akiko Ichinohe, et al.
Annals of Neurology|July 23, 2005
Mutations in phenotypically mild D-2-hydroxyglutaric aciduriaEduard A Struys, Stanley H Korman, Gajja S Salomons, et al.
American Journal of Human Genetics|December 11, 2008
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystoniaSimon Edvardson, Hiroko Hama, Avraham Shaag, et al.
Molecular Genetics and Metabolism|August 5, 2010
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutationSimon Edvardson, Stanley H Korman, Amir Livne, et al.
Molecular Genetics and Metabolism|May 20, 2008
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolismMorad Khayat, Stanley H Korman, Pnina Frankel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 26, 2006
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from IsraelStanley H Korman, Cornelis Jakobs, Patricia S Darmin, et al.
Journal of Medical Genetics|December 15, 2010
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeRonen Spiegel, Morad Khayat, Stavit A Shalev, et al.
Pageof 4

Showing results (11-20 of 40) with videos related to

Sort By:
Pageof 4
Journal of Human Genetics|May 3, 2005
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in JerusalemAvihu Boneh, Stanley H Korman, Kenichi Sato, et al.
Molecular Genetics and Metabolism|August 22, 2006
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiencyStanley H Korman, James J Pitt, Avihu Boneh, et al.
Journal of Human Genetics|May 31, 2007
A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees CAvraham Zeharia, Merel S Ebberink, Ronald J A Wanders, et al.
Annals of Neurology|July 6, 2004
Persistent NKH with transient or absent symptoms and a homozygous GLDC mutationStanley H Korman, Avihu Boneh, Akiko Ichinohe, et al.
Annals of Neurology|July 23, 2005
Mutations in phenotypically mild D-2-hydroxyglutaric aciduriaEduard A Struys, Stanley H Korman, Gajja S Salomons, et al.
American Journal of Human Genetics|December 11, 2008
Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystoniaSimon Edvardson, Hiroko Hama, Avraham Shaag, et al.
Molecular Genetics and Metabolism|August 5, 2010
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutationSimon Edvardson, Stanley H Korman, Amir Livne, et al.
Molecular Genetics and Metabolism|May 20, 2008
PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolismMorad Khayat, Stanley H Korman, Pnina Frankel, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 26, 2006
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from IsraelStanley H Korman, Cornelis Jakobs, Patricia S Darmin, et al.
Journal of Medical Genetics|December 15, 2010
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeRonen Spiegel, Morad Khayat, Stavit A Shalev, et al.
Pageof 4