The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

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The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

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The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

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The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

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P1476

The Ashkenazi Jewish carrier screening panel: evolution, status quo, and disparities.

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P2093

Alice K Tanner

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Jessica J Park

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Jodi D Hoffman

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Nicole Schreiber-Agus

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Ruth A Heim

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Ruth Kornreich

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Steven Keiles

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals

ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network.

Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

Population-based Tay-Sachs screening among Ashkenazi Jewish young adults in the 21st century: Hexosaminidase A enzyme assay is essential for accurate testing.

P304

1161-1167

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scholarly article

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10.1002/PD.4446

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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Kenneth J. Friedman

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2014-07-31T00:00:00Z

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24996053

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