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Publications by Masaaki Shiina
Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated With Childhood-Onset, Slowly Progressive Nemaline Myopathy
American Journal of Human Genetics
Genetics
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
American Journal of Human Genetics
Genetics
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
American Journal of Human Genetics
Genetics
A Novel GFI1B Mutation at the First Zinc Finger Domain Causes Congenital Macrothrombocytopenia
British Journal of Haematology
Hematology
Causal Relationship Between Acute Pancreatitis and Methylprednisolone Pulse Therapy for Fulminant Autoimmune Hepatitis: A Case Report and Review of Literature
Journal of Pharmaceutical Health Care and Sciences
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Germline Mutations in Pancreatic Cancer Become Better Defined
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Cancer Screening in the United States, 2010: A Review of Current American Cancer Society Guidelines and Issues in Cancer Screening
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