Takuma Ishii
Nagasaki Medical Center(JP)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Respiratory viral infections research, Genetics and Neurodevelopmental Disorders, Atrial Fibrillation Management and Outcomes, Chromosomal and Genetic Variations
Most-Cited Works
- → Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome(2012)519 cited
- → Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature(2013)101 cited
- → Spatial Accessibility to Pediatric Services(2008)61 cited
- → The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome(2001)60 cited
- → Intrafamilial phenotypic variability in Engelmann disease (ED): Are ED and Ribbing disease the same entity?(2000)52 cited
- → Pilomatrixomas in Rubinstein-Taybi syndrome(1998)36 cited
- → White blood cell count, C‐reactive protein and erythrocyte sedimentation rate in respiratory syncytial virus infection of the lower respiratory tract(1996)31 cited
- → A patient with early onset Huntington disease and severe cerebellar atrophy(2009)25 cited
- → Respiratory syncytial virus infection in lower respiratory tract and asthma attack in hospitalized children in North Hokkaido, Japan(1993)22 cited
- → Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2)(1997)22 cited