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Publications by Ayako Masui

Deletion at Chromosome 10p11.23-P12.1 Defines Characteristic Phenotypes With Marked Midface Retrusion

Journal of Human Genetics

English

Related publications

Chromosome 1p Terminal Deletion: Report of New Findings and Confirmation of Two Characteristic Phenotypes.

Journal of Medical Genetics

English

Marked Increases in Hepatic NAD(P)H:oxidoreductase Gene Transcription and mRNA Levels Correlated With a Mouse Chromosome 7 Deletion.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Monozygotic Twins With 22q11 Deletion and Discordant Phenotypes.

Journal of Medical Genetics

English

Sclerocornea Associated With the Chromosome 22q11.2 Deletion Syndrome

American Journal of Medical Genetics, Part A

English

Chromosome 3q29 Deletion With Gastrointestinal Malformation: A Case Report

Journal of Medical Case Reports

English

Heterogeneous Phenotypes of Japanese Cases With a Growth Hormone Gene Deletion

Japanese journal of human genetics

English

Terminal Deletion of the Chromosome 4q With Hemivertebra: Case Report

English

Infertility in a Man With Oligoasthenozoospermia Associated With Mosaic Chromosome 22q11 Deletion

Molecular genetics & genomic medicine

Molecular Biology

English

Indecent Exposure in Chromosome 4q Deletion Syndrome

Progress in Neurology and Psychiatry

Psychiatric Mental Health

English