Mitsuko Nakashima
Hamamatsu University School of Medicine(JP)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, RNA regulation and disease, RNA modifications and cancer
Most-Cited Works
- → De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood(2013)471 cited
- → Correction: Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome(2017)338 cited
- → Human genetic variation database, a reference database of genetic variations in the Japanese population(2016)300 cited
- → A SNP in the ABCC11 gene is the determinant of human earwax type(2006)294 cited
- → De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy(2013)231 cited
- → Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation(2013)223 cited
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