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Publications by Mariko Welsh

Intragenic Deletion as a Novel Type of Mutation in Wolman Disease

Molecular Genetics and Metabolism

Molecular Biology

English

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Intragenic Suppression of a Deletion Mutation of the Nonstructural Gene of an Influenza a Virus.

Journal of Virology

English

A Novel p.Val244Leu Mutation in MFN2 Leads to Charcot-Marie-Tooth Disease Type 2

Italian Journal of Pediatrics

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Homozygous Intragenic Deletion of Type I Hexokinase Gene Causes Lethal Hemolytic Anemia of the Affected Fetus

English

A Novel Mutation of the Myelin P0 Gene Segregating Charcot-Marie-Tooth Disease Type 1B Manifesting as Trigeminal Nerve Thickening

Journal of Neurology, Neurosurgery and Psychiatry

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Identification and Characterization of a Novel 43-Bp Deletion Mutation of the ATP7B Gene in a Chinese Patient With Wilson’s Disease: A Case Report

BMC Medical Genetics

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A Novel Deletion Mutation in KMT2A Identified in a Child With ID/DD and Blood Eosinophilia

BMC Medical Genetics

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Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

Multidisciplinary

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Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Multidisciplinary

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Identification and Functional Analysis of a Novel Von Willebrand Factor Mutation in a Family With Type 2A Von Willebrand Disease

Multidisciplinary

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