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Publications by Noboru Uchida
A Neonatal Case of HDR Syndrome and a Vascular Ring With a Novel GATA3 Mutation
Human Genome Variation
Biochemistry
Genetics
Molecular Biology
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A Rare Cause of Primary Hypoparathyroidism Due to a Novel Mutation in the GATA3 Gene – The Barakat Syndrome
International Journal of Pediatric Endocrinology
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Endocrinology
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Pediatrics
Metabolism
Diabetes
A Case of Allgrove Syndrome With a Novel IVS7 +1 G>A Mutation of the AAAS Gene
Clinical Pediatric Endocrinology
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A Novel Site Mutation in a Wiskott-Aldrich Syndrome Boy: A Case Report
Biomedical Journal of Scientific & Technical Research
A Novel Gene Mutation in Berardinelli Seip Syndrome: Three Case Reports
Endocrine Abstracts
A Novel TRPS1 Mutation in a Moroccan Family With Tricho-Rhino-Phalangeal Syndrome Type III: Case Report
BMC Medical Genetics
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A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome
PLoS ONE
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A Recurring FBN1 Gene Mutation in Neonatal Marfan Syndrome
Archives of Pediatrics & Adolescent Medicine
A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome
Human Genome Variation
Biochemistry
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Molecular Biology
Identification of a Novel Nonsense Mutation in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1: A Case Report
BMC Medical Genetics
Genetics
