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Publications by K M Davey

Mutation of DNAJC19, a Human Homologue of Yeast Inner Mitochondrial Membrane Co-Chaperones, Causes DCMA Syndrome, a Novel Autosomal Recessive Barth Syndrome-Like Condition

Journal of Medical Genetics
Genetics
2005English

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A Novel FBN1 Mutation Causes Autosomal Dominant Marfan Syndrome

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Genomic Duplication in Dyggve Melchior Clausen Syndrome, a Novel Mutation Mechanism in an Autosomal Recessive Disorder

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2005English

Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome

2020English

New Autosomal Recessive Faciodigitogenital Syndrome.

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1988English

Autosomal Recessive Distal Osteolysis Syndrome

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Recessive Mitochondrial Ataxia Syndrome

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Autosomal Recessive Hyperimmunoglobulin E Syndrome: A Distinct Disease Entity

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2005English

A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.

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1989English

Conotruncal Heart Defect/Microphthalmia Syndrome: Delineation of an Autosomal Recessive Syndrome.

Journal of Medical Genetics
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1997English

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