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Hugo Moser

Showing results (1-10 of 9) with videos related to

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Neurology|May 12, 2004
Where has all the white matter gone? Unraveling the mysteries of leukoencephalopathiesEdward M Kaye, Hugo Moser
Current Opinion in Neurology|May 29, 2004
Progress in X-linked adrenoleukodystrophyHugo Moser, Prachi Dubey, Ali Fatemi
Genetic Testing|October 24, 2007
Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screeningJean Schaller, Hugo Moser, Michael L Begleiter, et al.
Journal of Child Neurology|October 24, 2003
Leukodystrophies: pathogenesis, diagnosis, strategies, therapies, and future research directionsBernard L Maria, Kathleen McCann Deidrick, Hugo Moser, et al.
Molecular Genetics and Metabolism|July 11, 2006
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findingsWalter C Hubbard, Ann B Moser, Silvia Tortorelli, et al.
Molecular Genetics and Metabolism|November 16, 2004
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrumSteven Steinberg, Li Chen, Liumei Wei, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiencyLars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, et al.
Human Mutation|September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman, Li Chen, Paul Lin, et al.
Annals of Neurology|November 30, 2005
Progressive cavitating leukoencephalopathy: a novel childhood diseaseSakkuBai Naidu, Genila Bibat, Doris Lin, et al.
Pageof 1

Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Neurology|May 12, 2004
Where has all the white matter gone? Unraveling the mysteries of leukoencephalopathiesEdward M Kaye, Hugo Moser
Current Opinion in Neurology|May 29, 2004
Progress in X-linked adrenoleukodystrophyHugo Moser, Prachi Dubey, Ali Fatemi
Genetic Testing|October 24, 2007
Attitudes of families affected by adrenoleukodystrophy toward prenatal diagnosis, presymptomatic and carrier testing, and newborn screeningJean Schaller, Hugo Moser, Michael L Begleiter, et al.
Journal of Child Neurology|October 24, 2003
Leukodystrophies: pathogenesis, diagnosis, strategies, therapies, and future research directionsBernard L Maria, Kathleen McCann Deidrick, Hugo Moser, et al.
Molecular Genetics and Metabolism|July 11, 2006
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findingsWalter C Hubbard, Ann B Moser, Silvia Tortorelli, et al.
Molecular Genetics and Metabolism|November 16, 2004
The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrumSteven Steinberg, Li Chen, Liumei Wei, et al.
European Journal of Human Genetics : EJHG|January 13, 2011
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiencyLars Schlotawa, Eva Charlotte Ennemann, Karthikeyan Radhakrishnan, et al.
Human Mutation|September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman, Li Chen, Paul Lin, et al.
Annals of Neurology|November 30, 2005
Progressive cavitating leukoencephalopathy: a novel childhood diseaseSakkuBai Naidu, Genila Bibat, Doris Lin, et al.
Pageof 1