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Publications by Erin M Presant

Novel Polymerase Gamma (POLG1) Gene Mutation in the Linker Domain Associated With Parkinsonism

English

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Mitochondrial DNA Polymerase Gamma Gene Polymorphism Is Not Associated With Male Infertility

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A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Reproductive Sciences

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A Novel ROGDI Gene Mutation Is Associated With Kohlschutter-Tonz Syndrome

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A Novel Missense Mutation T101N in the Melanocortin-4 Receptor Gene Associated With Obesity

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The Linker Domain of Stat1 Is Required for Gamma Interferon-Driven Transcription

Molecular and Cellular Biology

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A Novel Missense Mutation That May Be Associated With the Polydactyly in the HOXD13 Gene: Q241H

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Hyperparathyroidism Associated With Parkinsonism.

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A Novel Mutation of the Ceruloplasmin Gene in a Patient With Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)

Tohoku Journal of Experimental Medicine

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Identification of a Novel Nonsense Mutation in the Rod Domain of GFAP That Is Associated With Alexander Disease

European Journal of Human Genetics

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