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Publications by Yosuke Sudo

Phenotypic Variability in a Family With Townes–Brocks Syndrome

Journal of Human Genetics

English

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The Case Number 130 of Townes Brocks Syndrome

Surgery & Case Studies: Open Access Journal

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X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family

Scientific Reports

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The Histopathology and Phenotypic Variability in H Syndrome

Clinical Case Reports

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007-Phenotypic and Genotypic Variability in Clinical Presentation in a Family With Congenital Adrenal Hyperplasia

Journal of Pediatric Nursing

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Phenotypic Variability in a Family With Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of PKA Phosphorylation

JCRPE Journal of Clinical Research in Pediatric Endocrinology

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Marked Intrafamilial Phenotypic Variation in a Family With SOD1 C111Y Mutation

Amyotrophic Lateral Sclerosis

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A Double Cryptic Chromosome Imbalance Is an Important Factor to Explain Phenotypic Variability in Wolf–Hirschhorn Syndrome

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Wolfram Syndrome in a Family With Variable Expression

Acta medica (Hradec Kralove)

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A New Model of Alagille Syndrome With Broad Phenotypic Representation

Gastroenterology

Gastroenterology

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