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Publications by Shigeo Yamaoka
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen Α2 Chain Cause Porencephaly
American Journal of Human Genetics
Genetics
Related publications
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
American Journal of Human Genetics
Genetics
Recurrent De Novo Mitochondrial DNA Mutations in Respiratory Chain Deficiency
Journal of Medical Genetics
Genetics
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
De Novo Mutations in the Gene Encoding the Synaptic Scaffolding proteinSHANK3in Patients Ascertained for Schizophrenia
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability
American Journal of Human Genetics
Genetics
Characterization of the C-Myb-Responsive Region and Regulation of the Human Type I Collagen Α2 Chain Gene by C-Myb
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes
Diabetes
Internal Medicine
Endocrinology
Metabolism
Diabetes
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy
American Journal of Human Genetics
Genetics
