Sage Journals: Discover world-class research

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Research article

First published 2015-3

A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation

Rachel Straussberg, Daphna Marom, Esther Sanado-Inbar [...]

Journal of Child Neurology

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Research article

First published 1999-1

Ashkenazi Jewish Population Frequency of the Bloom Syndrome Gene 2281Δ6ins7 Mutation

Benjamin B. Roa, Carlo V. Savino, C. Sue Richards

Genetic Testing and Molecular Biomarkers

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Research article

First published 1997-6

BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Families with Breast and Ovarian Cancer

Elizabeth L. Schubert, Heather C. Mefford, Jamie L. Dann [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2018-9-11

Non-Ashkenazi Jewish Origin is Associated with Early Onset Alzheimer’s Disease

Ophir Keret, Tzippy Shochat, Israel Steiner [...]

Journal of Alzheimer’s Disease

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Research article

First published 2001-06

Rapid Detection of the Two Common Mutations in Ashkenazi Jewish Patients with Mucolipidosis Type IV

Zhao-Hui Wang, Baijin Zeng, Gregory M. Pastores [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 1997-6

Prevalence of Recurring BRCA Mutations Among Ashkenazi Jewish Women with Breast Cancer

Mark Robson, Mary Kay Dabney, Gladys Rosenthal [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2004-12

The Bsm I Vitamin D Receptor Gene Polymorphism Is Associated with Ulcerative Colitis in Jewish Ashkenazi Patients

Rivka Dresner-Pollak, Zvi Ackerman, Rami Eliakim [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2013-10

Detection of Carriers in the Ashkenazi Jewish Population: An Objective Comparison of High-Throughput Genotyping Versus Gene-by-Gene Testing

Susan Klugman, Nicole Schreiber-Agus, Shivani Nazareth [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 1988-10

Gaucher Disease Type 1: Cloning and Characterization of a cDNA Encoding Acid β-Glucosidase from an Ashkenazi Jewish Patient

Peter N. Graves, Gregory A. Grabowski, Robin Eisner [...]

DNA and Cell Biology

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Research article

First published 2004-09

Psychological Impact of Genetic Testing for Breast Cancer Susceptibility in Women of Ashkenazi Jewish Background: A Prospective Study

Lesley Andrews, Bettina Meiser, Carmel Apicella [...]

Genetic Testing and Molecular Biomarkers

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