Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Satoko Miyatake

Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy

American Journal of Human Genetics

English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

English

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

American Journal of Human Genetics

English

A Novel GFI1B Mutation at the First Zinc Finger Domain Causes Congenital Macrothrombocytopenia

British Journal of Haematology

English

De Novo Truncating Variants in PHF21A Cause Intellectual Disability and Craniofacial Anomalies

European Journal of Human Genetics

English

Corrigendum: Ultra–sensitive Droplet Digital PCR for Detecting a Low–prevalence Somatic GNAQ Mutation in Sturge–Weber Syndrome

Scientific Reports

Multidisciplinary

English

SOFT Syndrome in a Patient From Chile

American Journal of Medical Genetics, Part A

English

Different Types of Suppression-Burst Patterns in Patients With Epilepsy of Infancy With Migrating Focal Seizures (EIMFS)

Seizure : the journal of the British Epilepsy Association

English