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Publications by N. A Parfrey

Homozygosity Mapping and Linkage Analysis Demonstrate That Autosomal Recessive Congenital Hereditary Endothelial Dystrophy (CHED) and Autosomal Dominant CHED Are Genetically Distinct

British Journal of Ophthalmology
Molecular NeuroscienceOphthalmologySensory SystemsCellular
1999English

Related publications

Linkage Mapping and Phenotypic Analysis of Autosomal Dominant Pallister-Hall Syndrome.

Journal of Medical Genetics
Genetics
1997English

Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of McPh4 to Chromosome 15

American Journal of Human Genetics
Genetics
1999English

Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

2020English

Autosomal Recessive Forms of Hereditary Motor and Sensory Neuropathy.

Journal of Neurology, Neurosurgery and Psychiatry
PsychiatryMental HealthNeurologySurgery
1980English

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes

Journal of Medical Genetics
Genetics
1989English

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2S

2020English

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2U

2020English

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2I

2020English

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

Annals of Internal Medicine
Internal MedicineMedicine
1991English

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