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Biochemical markers in persons with preclinical familial Alzheimer disease

Neurology, 2008-07, Vol.71 (2), p.85-92

2008

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EP07.08: Clinical experience with non‐invasive prenatal testing (NIPT) for rare autosomal trisomies

Ultrasound in obstetrics & gynecology, 2018-10, Vol.52 (S1), p.221-221

2018

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OP05.05: Counselling patients with positive non‐invasive prenatal screens: how maternal age and ultrasound findings impact positive predictive values

Ultrasound in obstetrics & gynecology, 2015-09, Vol.46 (S1), p.66-66

2015

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Enhancing pediatric clinical trial feasibility through the use of Bayesian statistics

Pediatric research, 2017-11, Vol.82 (5), p.814-821

2017

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Rare myelin protein zero sequence variant in late onset CMT1B

Journal of the neurological sciences, 2007-12, Vol.263 (1), p.177-179

2007

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Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Nature genetics, 1999-12, Vol.23 (4), p.391-392

1999

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Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

Neurology, 2000-09, Vol.55 (6), p.800-805

2000

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

Genetics in medicine, 2013-03, Vol.15 (3), p.178-186

2013

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Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis

Neurology, 2004-05, Vol.62 (10), p.1865-1868

2004

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The demographic impact of Partition in the Punjab in 1947

Population studies, 2008-07, Vol.62 (2), p.155-170

2008

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Late-onset hereditary axonal neuropathies

Neurology, 2008-07, Vol.71 (1), p.14-20

2008

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Early diagnosis of retroperitoneal necrotizing fasciitis

Critical care medicine, 2001-05, Vol.29 (5), p.1071-1073

2001

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Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

Neuromuscular disorders : NMD, 2002-10, Vol.12 (7), p.643-650

2002

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A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

JAMA : the journal of the American Medical Association, 2001-11, Vol.286 (18), p.2257

2001

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Clinical and genetic analysis of CMT1B in a Nigerian family

Muscle & nerve, 2003-05, Vol.27 (5), p.628-630

2003

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ACMG recommendations for standards for interpretation of sequence variations

Genetics in medicine, 2000-09, Vol.2 (5), p.302-303

2000

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Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

American journal of human genetics, 1994-03, Vol.54 (3), p.414-423

1994

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Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

Neurology, 1994-01, Vol.44 (1), p.120-120

1994

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Gender Differences in the Occupational Status of Undocumented Immigrants in the United States: Experience before and after Legalization

The International migration review, 1998, Vol.32 (4), p.1015

1998

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Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

American journal of human genetics, 1992-10, Vol.51 (4), p.721-729

1992

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Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy

Neurology, 1998-05, Vol.50 (5), p.1501-1504

1998

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Population Statistics, the Holocaust, and the Nuremberg Trials

Population and development review, 1998-09, Vol.24 (3), p.511-552

Seltzer, William

1998

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Genetic analysis of hispanic individuals with cystic fibrosis

American journal of human genetics, 1994-03, Vol.54 (3), p.443-446

1994

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Fatal Infantile X-Linked Neuropathy

Journal of child neurology, 2000-12, Vol.15 (12), p.829-830

2000

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Severe X-Linked Charcot-Marie-Tooth Neuropathy Due to New Mutations [G59R(G→C), W44X(G→A)] in the Connexin 32 Gene

European neurology, 2000-01, Vol.44 (1), p.61-63

2000

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Biochemical markers in persons with preclinical familial Alzheimer disease

EP07.08: Clinical experience with non‐invasive prenatal testing (NIPT) for rare autosomal trisomies

OP05.05: Counselling patients with positive non‐invasive prenatal screens: how maternal age and ultrasound findings impact positive predictive values

Enhancing pediatric clinical trial feasibility through the use of Bayesian statistics

Rare myelin protein zero sequence variant in late onset CMT1B

Expansion of a novel CAG trinucleotide repeat in the 5′ region of PPP2R2B is associated with SCA12

Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese

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

Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis

The demographic impact of Partition in the Punjab in 1947

Late-onset hereditary axonal neuropathies

Early diagnosis of retroperitoneal necrotizing fasciitis

Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

Clinical and genetic analysis of CMT1B in a Nigerian family

ACMG recommendations for standards for interpretation of sequence variations

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy

Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring

Gender Differences in the Occupational Status of Undocumented Immigrants in the United States: Experience before and after Legalization

Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophy

Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy

Population Statistics, the Holocaust, and the Nuremberg Trials

Genetic analysis of hispanic individuals with cystic fibrosis

Fatal Infantile X-Linked Neuropathy

Severe X-Linked Charcot-Marie-Tooth Neuropathy Due to New Mutations [G59R(G→C), W44X(G→A)] in the Connexin 32 Gene

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