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Publications by Naoki Hamajima

Increased Protein Stability of CDKN1C Causes a Gain-Of-Function Phenotype in Patients With IMAGe Syndrome

Multidisciplinary

English

Related publications

A Gain-Of-Function Mutation in theGRIK2gene Causes Neurodevelopmental Deficits

Neurology: Genetics

English

Familial Russell–Silver Syndrome Like Phenotype in the PCNA Domain of the CDKN1C Gene, a Further Case

Case Reports in Genetics

English

Alternative Mechanisms Associated With Silencing of CDKN1C in Beckwith-Wiedemann Syndrome

Journal of Medical Genetics

English

Gain-Of-Function Mutation in Gli3 Causes Ventricular Septal Defects

English

A Gain-Of-Function Variant in DIAPH1 Causes Dominant Macrothrombocytopenia and Hearing Loss

English

KATPchannel Gain-Of-Function Leads to Increased Myocardial L-Type Ca2+current and Contractility in Cantu Syndrome

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Gain-Of-Function IKBKB Mutation Causes Human Combined Immune Deficiency

Journal of Experimental Medicine

English

Lymphocyte Phenotype and Function in Pseudolymphoma Associated With Sjögren's Syndrome.

Journal of Clinical Investigation

English

Loss of OATP1B3 Function Causes Rotor Syndrome

Cancer Biology and Therapy

Cancer Research

Molecular Medicine

English