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Renpenning syndrome maps to Xp11.

American journal of human genetics·1998

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.

Journal of medical genetics·1993

Leigh's disease with clinical manifestations of Cornelia de Lange syndrome.

Pediatric neurosurgery·1991

Amyotrophic lateral sclerosis in a patient with fragile X syndrome.

Neurology·1990

Autosomal recessive juvenile cataract in Hutterites.

Ophthalmic paediatrics and genetics·1987

Muscular dystrophy in Saskatchewan Hutterites.

American journal of medical genetics·1985

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

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Nucleus (Austin, Tex.)·2026

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Biochemical and immunological characterization of ceruloplasmin genetic variants. A proposed model for quantitative

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Renpenning syndrome maps to Xp11.

Five year study of prenatal testing for Huntington's disease: demand, attitudes, and psychological assessment.

Leigh's disease with clinical manifestations of Cornelia de Lange syndrome.

Amyotrophic lateral sclerosis in a patient with fragile X syndrome.

Autosomal recessive juvenile cataract in Hutterites.

Muscular dystrophy in Saskatchewan Hutterites.

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy.

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

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Transcription and Three-Dimensional Genome Organization: Cause, Consequence, or Coordination?

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Biochemical and immunological characterization of ceruloplasmin genetic variants. A proposed model for quantitative...

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Biochemical and immunological characterization of ceruloplasmin genetic variants. A proposed model for quantitative