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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

Human mutation, 2004-02, Vol.23 (2), p.147-159

2004

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Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia

JNCI : Journal of the National Cancer Institute, 2003-10, Vol.95 (20), p.1548-1551

2003

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Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum

Clinical genetics, 2010-11, Vol.78 (5), p.502-504

2010

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Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Nature genetics, 1994-10, Vol.8 (2), p.195-202

1994

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Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome

Genomics (San Diego, Calif.), 2002-02, Vol.79 (2), p.186-196

2002

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Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

Pediatric radiology, 2003-04, Vol.33 (4), p.256-260

2003

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Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

Genetics in medicine, 2003-07, Vol.5 (4), p.338-341

2003

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Bifid epiglottis and polydactyly: A new genetic syndrome

Otolaryngology-head and neck surgery, 1997, Vol.116 (1), p.129-133

1997

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Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels

Annals of neurology, 1987-03, Vol.21 (3), p.232-239

1987

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Students online: learning medical genetics

American journal of human genetics, 1993-03, Vol.52 (3), p.637-642

1993

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Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program

The New England journal of medicine, 1985-07, Vol.313 (1), p.16

1985

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Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats

The American journal of clinical nutrition, 1990-05, Vol.51 (5), p.853-858

1990

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Teaching human genetics in biochemistry by computer literature searching

American journal of human genetics, 1989-04, Vol.44 (4), p.597-604

1989

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Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects

American journal of medical genetics, 2001-08, Vol.102 (3), p.250-257

2001

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Weaver syndrome: Autosomal dominant inheritance of the disorder

American journal of medical genetics, 1998-10, Vol.79 (4), p.305-310

1998

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Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype

American journal of medical genetics, 1996-10, Vol.65 (1), p.44-51

1996

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CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review

American journal of medical genetics, 1997-10, Vol.72 (2), p.205-209

1997

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New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

American journal of medical genetics, 1992-04, Vol.43 (1-2), p.458-466

1992

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Biochemical changes in temperature-activated statoblasts of an ectoproct bryozoan

The Journal of experimental zoology, 1976-07, Vol.197 (1), p.141-147

1976

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Updating McKusick: An educational exercise for medical students

American journal of medical genetics, 1986-07, Vol.24 (3), p.505-511

1986

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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia

Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

Molecular Genetic Studies of Human Chromosome 7 in Russell–Silver Syndrome

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features

Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics

Bifid epiglottis and polydactyly: A new genetic syndrome

Adrenoleukodystrophy: Dietary oleic acid lowers hexacosanoate levels

Students online: learning medical genetics

Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program

Fatty acid alterations and carboxylase deficiencies in the skin of biotin-deficient rats

Teaching human genetics in biochemistry by computer literature searching

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects

Weaver syndrome: Autosomal dominant inheritance of the disorder

Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype

CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review

New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum

Biochemical changes in temperature-activated statoblasts of an ectoproct bryozoan

Updating McKusick: An educational exercise for medical students

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