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Publications by Mitsuko Nakashima

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

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

The Diagnostic Utility of Exome Sequencing in Joubert Syndrome and Related Disorders

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

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

Ethical Considerations About Spirituality in Social Work: Insights From a National Qualitative Survey

Families in Society

Social Sciences

English