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Results: 1-8 |
Results: 8
Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease
Authors: Wilcox, William R. Banikazemi, Maryam Guffon, Nathalie Waldek, Stephen Lee, Philip Linthorst, Gabor E. Desnick, Robert J. Germain, Dominique P. for the International Fabry Disease Study Group
Citation: R. Wilcox, William et al., Long-Term Safety and Efficacy of Enzyme Replacement Therapyfor Fabry Disease, American journal of human genetics , 75(1), 2004, pp. 65-74
Fabry Disease: Novel .-Galactosidase A 3.-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3.-End Formation
Authors: Yasuda, Makiko Shabbeer, Junidad Osawa, Makiko Desnick, Robert J.
Citation: Yasuda, Makiko et al., Fabry Disease: Novel .-Galactosidase A 3.-Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3.-End Formation, American journal of human genetics , 73(1), 2003, pp. 162-173
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
Authors: Plewinska, Magdalena Thunell, Stig Holmberg, Lars Wetmur, James G. Desnick, Robert J.
Citation: Plewinska, Magdalena et al., delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote., American journal of human genetics , 49-I(1), 1991, pp. 167-174
Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome
Authors: Tukel, Turgut .o.i., Dra.en Al-Gazali, Lihadh I. Erazo, Mónica Desnick, Robert J.
Citation: Tukel, Turgut et al., Homozygous Nonsense Mutations in TWIST2 Cause Setleis Syndrome, American journal of human genetics (Online) AJHG , 87(2), 2010, pp. 289-296
Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families
Authors: Tukel, Turgut Present, Daniel Rachmilewitz, Daniel Mayer, Lloyd Grant, Deniera Risch, Neil Shalata, Adel Desnick, Robert J.
Citation: Tukel, Turgut et al., Crohn Disease: Frequency and Nature of CARD15 Mutations in Ashkenazi and Sephardi/Oriental Jewish Families, American journal of human genetics , 74(4), 2004, pp. 623-636
Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.
Authors: Wetmur, James G. Kaya, Angela H. Plewinska, Magdalena Desnick, Robert J.
Citation: G. Wetmur, James et al., Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning., American journal of human genetics , 49-II(4), 1991, pp. 757-763
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
Authors: Jin, Wei-Dong Jackson, Christine E. Desnick, Robert J. Schuchman, Edward H.
Citation: Jin, Wei-dong et al., Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity., American journal of human genetics , 50-II(4), 1992, pp. 795-800
The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations
Authors: Simonaro, Calogera M. Desnick, Robert J. McGovern, Margaret M. Wasserstein, Melissa P. Schuchman, Edward H.
Citation: M. Simonaro, Calogera et al., The Demographics and Distribution of Type B Niemann-Pick Disease: Novel Mutations Lead to New Genotype/Phenotype Correlations, American journal of human genetics , 71(6), 2002, pp. 1413-1419
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