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Phenotypic spectrum and management issues in Kabuki syndrome

The Journal of pediatrics, 1999-04, Vol.134 (4), p.480-485

1999

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Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

Human molecular genetics, 2003-06, Vol.12 (12), p.1439-1447

2003

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CHARGE Association: An Update and Review for the Primary Pediatrician

Clinical Pediatrics, 1998-03, Vol.37 (3), p.159-173

1998

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Mutation Analysis of UBE3A in Angelman Syndrome Patients

American journal of human genetics, 1998-06, Vol.62 (6), p.1353-1360

1998

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Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance

Proceedings of the National Academy of Sciences - PNAS, 1994-05, Vol.91 (11), p.4997-5001

1994

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Retinitis pigmentosa

Survey of Ophthalmology, 1988-11, Vol.33 (3), p.137-177

Pagon, Roberta A.

1988

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Online medical genetics resources: a US perspective

BMJ (Online), 2001-04, Vol.322 (7293), p.1035-1037

International edition, 2001

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Prevalence of hypopigmented macules in a healthy population

The Journal of pediatrics, 1996-09, Vol.129 (3), p.355-361

1996

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DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

American journal of human genetics, 1998-04, Vol.62 (4), p.855-864

1998

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Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases

American journal of epidemiology, 2009-08, Vol.170 (3), p.269-279

2009

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Genomic sequence of the DAX1 gene : An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

The journal of clinical endocrinology and metabolism, 1996-07, Vol.81 (7), p.2481-2486

1996

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Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

Molecular syndromology, 2011-05, Vol.1 (5), p.262-271

2011

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Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1

American journal of human genetics, 1994-07, Vol.55 (1), p.12-20

1994

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Causal heterogeneity in isolated lissencephaly

Neurology, 1992-07, Vol.42 (7), p.1375-1375

1992

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OA1 Mutations and Deletions in X-Linked Ocular Albinism

American journal of human genetics, 1998-04, Vol.62 (4), p.800-809

1998

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Pediatric research, 1990-09, Vol.28 (3), p.247-255

1990

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Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

American journal of human genetics, 1985-03, Vol.37 (2), p.250-267

1985

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GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing

Journal of the American Medical Informatics Association : JAMIA, 2000-05, Vol.7 (3), p.267-276

2000

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Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Human genetics, 1992, Vol.88 (3), p.279-282

1992

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Multilocus FISH Analysis

American journal of human genetics, 1997-07, Vol.61 (1), p.16-17

Pagon, Roberta A.

1997

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Williams syndrome: features in late childhood and adolescence

Pediatrics (Evanston), 1987-07, Vol.80 (1), p.85-91

1987

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A Gender Assessment Team: experience with 250 patients over a period of 25 years

Genetics in medicine, 2007-06, Vol.9 (6), p.348-357

2007

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Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties

Genetics in medicine, 2011-06, Vol.13 (6), p.553-562

2011

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Fetal hydrocephalus: sonographic detection and clinical significance of associated anomalies

Radiology, 1987-04, Vol.163 (1), p.187-191

1987

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The virtues of the virtual world

Genetics in medicine, 1999-07, Vol.1 (5), p.177-177

1999

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Phenotypic spectrum and management issues in Kabuki syndrome

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

CHARGE Association: An Update and Review for the Primary Pediatrician

Mutation Analysis of UBE3A in Angelman Syndrome Patients

Down Syndrome Phenotypes: The Consequences of Chromosomal Imbalance

Retinitis pigmentosa

Online medical genetics resources: a US perspective

Prevalence of hypopigmented macules in a healthy population

DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model

Genome-Wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases

Genomic sequence of the DAX1 gene : An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1

Causal heterogeneity in isolated lissencephaly

OA1 Mutations and Deletions in X-Linked Ocular Albinism

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes

Multilocus FISH Analysis

Williams syndrome: features in late childhood and adolescence

A Gender Assessment Team: experience with 250 patients over a period of 25 years

Implementation outcomes of a multiinstitutional web-based ethical, legal, and social implications genetics curriculum for primary care residents in three specialties

Fetal hydrocephalus: sonographic detection and clinical significance of associated anomalies

The virtues of the virtual world

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