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
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
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
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
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
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
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
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