ProfileOfResearchers

Identified 3

1

TITLE: Use of a rare disease registry for establishing phenotypic classification of previously unassignedGLAvariants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup
AUTHORS: Dominique P Germain; Oliveira, JP ; Daniel G Bichet; Han Wook Yoo; Robert J Hopkin; Roberta Lemay; Juan Politei; Christoph Wanner; William R Wilcox; David G Warnock;
PUBLISHED: 2020, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 57, ISSUE: 8

INDEXED IN:

Scopus

WOS

2

TITLE: A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patients Full Text
AUTHORS: Robert J Hopkin; Dominique P Germain; Daniel G Bichet; Daniel J Gruskin; Roberta M Lemay; Oliveira, JP ; Juan M Politei; Christoph Wanner; William R Wilcox; Han Wook Yoo; David G Warnock;
PUBLISHED: 2018, SOURCE: We're Organizing Research for Lysosomal Diseases (WORLD) Symposium in MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 2

INDEXED IN:

WOS

3

TITLE: A Fabry genotype-phenotype working group initiative: classifying GM mutations for male patients in the Fabry Registry Full Text
AUTHORS: Dominique P Germain; Oliveira, JP ; Daniel G Bichet; Han Wook Yoo; Daniel J Gruskin; Robert J Hopkin; Roberta Lemay; Juan Politei; Christoph Wanner; William R Wilcox; David G Warnock;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 120, ISSUE: 1-2

INDEXED IN:

WOS

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