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Publications by Yumi Enomoto

Novel CUL7 Biallelic Mutations Alter the Skeletal Phenotype of 3M Syndrome

Human Genome Variation

Molecular Biology

English

Related publications

Refining the Phenotype of Common Mutations in Rett Syndrome

Journal of Medical Genetics

English

Mutations in CUL7, OBSL1 and CCDC8 in 3-M Syndrome Lead to Disordered Growth Factor Signalling

Journal of Molecular Endocrinology

Molecular Biology

English

Novel Recessive PDZD7 Biallelic Mutations in Two Chinese Families With Non-Syndromic Hearing Loss

American Journal of Medical Genetics, Part A

English

Gray Platelet Syndrome: Novel Mutations of the NBEAL2 Gene

American Journal of Hematology

English

MeCP2 Mutations in Children With and Without the Phenotype of Rett Syndrome

English

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

Gastroenterology

Gastroenterology

English

Fetal Costello Syndrome: A Description of the Phenotype of HRAS Exon 1 Mutations

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English

Mutations inRIT1cause Noonan Syndrome - Additional Functional Evidence and Expanding the Clinical Phenotype

Clinical Genetics

English

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

American Journal of Human Genetics

English