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N Tayebi

Showing results (21-30 of 31) with videos related to

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Molecular Genetics and Metabolism|June 18, 2003
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?N Tayebi, J Walker, B Stubblefield, et al.
American Journal of Medical Genetics|January 31, 1998
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase geneN Tayebi, S R Cushner, W Kleijer, et al.
Human Mutation|April 5, 2002
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher diseaseE Orvisky, J K Park, A Parker, et al.
European Journal of Human Genetics : EJHG|June 3, 1999
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?D L Stone, O P van Diggelen, J B de Klerk, et al.
Human Genetics|June 16, 1999
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher diseaseE K Lau, N Tayebi, L J Ingraham, et al.
Molecular Genetics and Metabolism|June 23, 1998
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locusK Reissner, N Tayebi, B K Stubblefield, et al.
Journal of Medical Genetics|February 1, 1996
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher diseaseE Sidransky, N Tayebi, B K Stubblefield, et al.
Blood Cells, Molecules & Diseases|November 9, 2010
A monozygotic twin pair with highly discordant Gaucher phenotypesM Biegstraaten, I N van Schaik, J M F G Aerts, et al.
Science (New York, N.Y.)|November 3, 1995
Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid developmentS M Russell, N Tayebi, H Nakajima, et al.
Molecular Psychiatry|October 17, 1998
Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analysesF X Castellanos, E Lau, N Tayebi, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Molecular Genetics and Metabolism|June 18, 2003
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?N Tayebi, J Walker, B Stubblefield, et al.
American Journal of Medical Genetics|January 31, 1998
Prenatal lethality of a homozygous null mutation in the human glucocerebrosidase geneN Tayebi, S R Cushner, W Kleijer, et al.
Human Mutation|April 5, 2002
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher diseaseE Orvisky, J K Park, A Parker, et al.
European Journal of Human Genetics : EJHG|June 3, 1999
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?D L Stone, O P van Diggelen, J B de Klerk, et al.
Human Genetics|June 16, 1999
Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher diseaseE K Lau, N Tayebi, L J Ingraham, et al.
Molecular Genetics and Metabolism|June 23, 1998
Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locusK Reissner, N Tayebi, B K Stubblefield, et al.
Journal of Medical Genetics|February 1, 1996
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher diseaseE Sidransky, N Tayebi, B K Stubblefield, et al.
Blood Cells, Molecules & Diseases|November 9, 2010
A monozygotic twin pair with highly discordant Gaucher phenotypesM Biegstraaten, I N van Schaik, J M F G Aerts, et al.
Science (New York, N.Y.)|November 3, 1995
Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid developmentS M Russell, N Tayebi, H Nakajima, et al.
Molecular Psychiatry|October 17, 1998
Lack of an association between a dopamine-4 receptor polymorphism and attention-deficit/hyperactivity disorder: genetic and brain morphometric analysesF X Castellanos, E Lau, N Tayebi, et al.
Pageof 4