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Publications by N Ishihara

Clinical and Molecular Analysis of Mowat-Wilson Syndrome Associated With ZFHX1B Mutations and Deletions at 2q22-Q24.1

Journal of Medical Genetics

English

Reduction of Delta-Aminolevulinate Dehydratase Concentration by Bromobenzene in Rats.

Occupational and Environmental Medicine

Occupational Health

English

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Mowat-Wilson Syndrome Presenting With Purpura Fulminans

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Clinical and Genetic Characteristics of New Allele Variants of the Mowat–Wilson Syndrome Caused by ZEB2 Gene Mutations

Nervno-Myshechnye Bolezni

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Mowat-Wilson Syndrome With Hirschsprung Disease: A Case Report

Cocuk Cerrahisi Dergisi

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MECP2 Mutations Associated With Rett Syndrome - Molecular Approaches

Journal of Neonatal Biology

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Galloway-Mowat Syndrome

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Clinical and Molecular Analysis of Nine Families With Adams–Oliver Syndrome

European Journal of Human Genetics

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A Case of Galloway-Mowat Syndrome With Classic Clinical Triad in the Neonatal Period

Korean Journal of Perinatology

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The Expanding Spectrum of Clinical Phenotypes Associated With PSTPIP1 Mutations: From PAPA to PAMI Syndrome and Beyond

British Journal of Dermatology

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Clinical Features and Molecular Analysis of Seven British Kindreds With Hereditary Hyperferritinaemia Cataract Syndrome

European Journal of Human Genetics

English