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Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes

The pharmacogenomics journal, 2013-08, Vol.13 (4), p.369-377

2013

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Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease‐causing variants

Clinical genetics, 2017-04, Vol.91 (4), p.599-604

2017

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Identification of CYP2C194B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness

The pharmacogenomics journal, 2012-08, Vol.12 (4), p.297-305

2012

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Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population

Clinical genetics, 2015-08, Vol.88 (2), p.177-181

2015

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PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

Clinical genetics, 2009-02, Vol.75 (2), p.190-194

2009

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A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

Clinical genetics, 2014-08, Vol.86 (2), p.155-160

2014

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Next-generation sequencing for detection of mutations associated with rare disorders in patients meeting diagnostic criteria for primary progressive multiple sclerosis

Journal of the neurological sciences, 2013-10, Vol.333, p.e362-e362

2013

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Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

Journal of medical genetics, 2003-10, Vol.40 (10), p.767-772

2003

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Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization

Movement disorders, 2010-07, Vol.25 (10), p.1364-1372

2010

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Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease

JIMD Reports Volume 16, 2014, Vol.16, p.31-38

2014

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Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene

The Journal of biological chemistry, 1990-06, Vol.265 (16), p.9319-9326

1990

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Structural Organization of the Human α -galactosidase A Gene: Further Evidence for the Absence of a 3′ Untranslated Region

Proceedings of the National Academy of Sciences - PNAS, 1988-06, Vol.85 (11), p.3903-3907

1988

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Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene

The Journal of clinical investigation, 1989-04, Vol.83 (4), p.1390-1399

1989

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Association between serum triiodothyronine (t3) level and risk of disease recurrence in men with localized prostate cancer

Prostate cancer and prostatic diseases, 2001-01, Vol.4 (4), p.232-234

2001

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Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population

Genetics in medicine, 2004-09, Vol.6 (5), p.415-420

2004

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Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population

American journal of human genetics, 2001-10, Vol.69 (4), p.863-868

2001

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Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population

American journal of human genetics, 2002-04, Vol.70 (4), p.1023-1027

2002

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CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain

Neuron (Cambridge, Mass.), 1995-11, Vol.15 (5), p.1193-1201

1995

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PTPNll analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

Clinical genetics, 2009, Vol.75 (2), p.190-194

2009

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Cystic fibrosis carrier screening: Validation of a novel method using BeadChip technology

Genetics in medicine, 2004-09, Vol.6 (5), p.431-438

2004

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THE CONSTITUTIONALITY OF PUNISHING DEADBEAT PARENTS: THE CHILD SUPPORT RECOVERY ACT OF 1992 AFTER THE UNITED STATES V. LOPEZ

Fordham law review, 1995-12, Vol.64 (3), p.1089-1120

Kornreich, R

1995

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Lack of Class I H-2 Antigens in Cells Transformed by Radiation Leukemia Virus is Associated with Methylation and Rearrangement of H-2 DNA

Proceedings of the National Academy of Sciences - PNAS, 1986-06, Vol.83 (12), p.4504-4508

1986

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Nonradioactive Detection of the Common Connexin 26 167delT and 35delG Mutations and Frequencies among Ashkenazi Jews

Molecular genetics and metabolism, 2001-06, Vol.73 (2), p.160-163

2001

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Murine Leukemia Virus Sequences are Encoded in the Murine Major Histocompatibility Complex

Proceedings of the National Academy of Sciences - PNAS, 1984-03, Vol.81 (6), p.1804-1808

1984

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The relevance of sociology to health visiting--which type of sociology? Which type of health visiting?

Health visitor, 1977-08, Vol.50 (8), p.264

Kornreich, R

1977

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Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease‐causing variants

Identification of CYP2C194B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

Next-generation sequencing for detection of mutations associated with rare disorders in patients meeting diagnostic criteria for primary progressive multiple sclerosis

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

Gaucher disease ascertained through a Parkinson's center: Imaging and clinical characterization

Cognitive and Antipsychotic Medication Use in Monoallelic GBA-Related Parkinson Disease

Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene

Structural Organization of the Human α -galactosidase A Gene: Further Evidence for the Absence of a 3′ Untranslated Region

Fabry disease: six gene rearrangements and an exonic point mutation in the α-galactosidase gene

Association between serum triiodothyronine (t3) level and risk of disease recurrence in men with localized prostate cancer

Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population

Maple Syrup Urine Disease: Identification and Carrier-Frequency Determination of a Novel Founder Mutation in the Ashkenazi Jewish Population

Carrier Screening for Mucolipidosis Type IV in the American Ashkenazi Jewish Population

CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain

PTPNll analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings

Cystic fibrosis carrier screening: Validation of a novel method using BeadChip technology

THE CONSTITUTIONALITY OF PUNISHING DEADBEAT PARENTS: THE CHILD SUPPORT RECOVERY ACT OF 1992 AFTER THE UNITED STATES V. LOPEZ

Lack of Class I H-2 Antigens in Cells Transformed by Radiation Leukemia Virus is Associated with Methylation and Rearrangement of H-2 DNA

Nonradioactive Detection of the Common Connexin 26 167delT and 35delG Mutations and Frequencies among Ashkenazi Jews

Murine Leukemia Virus Sequences are Encoded in the Murine Major Histocompatibility Complex

The relevance of sociology to health visiting--which type of sociology? Which type of health visiting?

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