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Publications by Nobuhiko Okamoto
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
American Journal of Human Genetics
Genetics
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Equivalent Missense Variant in the FOXP2 and FOXP1 Transcription Factors Causes Distinct Neurodevelopmental Disorders
Human Mutation
Genetics
DNA Methylation Analysis of Multiple Imprinted DMRs in Sotos Syndrome Reveals IGF2 ‐DMR0 as a DNA Methylation‐dependent, P0 Promoter‐specific Enhancer
FASEB Journal
Biochemistry
Biotechnology
Genetics
Molecular Biology
Medicine
Clinical Characteristics and in Vitro Analysis of MYO6 Variants Causing Late-Onset Progressive Hearing Loss
Genes
Genetics
HRAS Mutants Identified in Costello Syndrome Patients Can Induce Cellular Senescence: Possible Implications for the Pathogenesis of Costello Syndrome
Journal of Human Genetics
Genetics
Deep Intronic GPR143 Mutation in a Japanese Family With Ocular Albinism
Scientific Reports
Multidisciplinary
Intellectual Disability and Dysmorphic Features in Male Siblings Arising From a Novel TAF1 Mutation
Congenital Anomalies
Child Health
Pediatrics
Perinatology
Medicine
Developmental Biology
Embryology
Endocrinological Characteristics of 25 Japanese Patients With CHARGE Syndrome
Clinical Pediatric Endocrinology
Child Health
Endocrinology
Perinatology
Pediatrics
Metabolism
Diabetes
Management of Walled-Off Necrosis (WON) : Percutaneous Step-Up Approach
Progress of Digestive Endoscopy
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