Literature DB >> 11596986

Molecular epidemiology of Tay-Sachs disease.

N Risch1.   

Abstract

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Year:  2001        PMID： 11596986     DOI： 10.1016/s0065-2660(01)44083-1

Source DB:  PubMed          Journal:  Adv Genet        ISSN： 0065-2660            Impact factor:   1.944


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  7 in total

1.  A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases.

Authors:  Montgomery Slatkin
Journal:  Am J Hum Genet       Date:  2004-06-18       Impact factor: 11.025

2.  Firing up the nature/nurture controversy: bioethics and genetic determinism.

Authors:  I de Melo-Martín
Journal:  J Med Ethics       Date:  2005-09       Impact factor: 2.903

3.  Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

Authors:  Amos Frisch; Roberto Colombo; Elena Michaelovsky; Mazal Karpati; Boleslaw Goldman; Leah Peleg
Journal:  Hum Genet       Date:  2004-01-15       Impact factor: 4.132

4.  Linear-after-the-exponential (LATE)-PCR: an advanced method of asymmetric PCR and its uses in quantitative real-time analysis.

Authors:  J Aquiles Sanchez; Kenneth E Pierce; John E Rice; Lawrence J Wangh
Journal:  Proc Natl Acad Sci U S A       Date:  2004-02-09       Impact factor: 11.205

Review 5.  Mitochondrial Ca2+ homeostasis in lysosomal storage diseases.

Authors:  Kirill Kiselyov; Shmuel Muallem
Journal:  Cell Calcium       Date:  2008-02-01       Impact factor: 6.817

6.  Weighted pooling--practical and cost-effective techniques for pooled high-throughput sequencing.

Authors:  David Golan; Yaniv Erlich; Saharon Rosset
Journal:  Bioinformatics       Date:  2012-06-15       Impact factor: 6.937

7.  Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Authors:  Jiale Xiang; Jiyun Yang; Lisha Chen; Qiang Chen; Haiyan Yang; Chengcheng Sun; Qing Zhou; Zhiyu Peng
Journal:  Sci Rep       Date:  2020-01-15       Impact factor: 4.379
  7 in total

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