Chiharu Torii

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer J. Johnston, Sandra Whalen et al. · European Journal of Human Genetics · 2009 · 108 citations · Full text

Bcor Analysis, Clinical Disorders, Ophthalmology +5

Effects of Methylenetetrahydrofolate Reductase and Reduced Folate Carrier 1 Polymorphisms on High-Dose Methotrexate-Induced Toxicities in Children With Acute Lymphoblastic Leukemia or Lymphoma

Noriko Shimasaki, Tetsuya Mori, Hazuki Samejima et al. · Journal of Pediatric Hematology/Oncology · 2006 · 97 citations

Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

Hideki Mutai, Suzuki Naohiro, Atsushi Shimizu et al. · Orphanet Journal of Rare Diseases · 2013 · 96 citations · Full text

Influence of MTHFR and RFC1 Polymorphisms on Toxicities During Maintenance Chemotherapy for Childhood Acute Lymphoblastic Leukemia or Lymphoma

Noriko Shimasaki, Tetsuya Mori, Chiharu Torii et al. · Journal of Pediatric Hematology/Oncology · 2008 · 62 citations

Hematological Malignancy, Pediatric Hematology, Medicine +13

Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of <i>FBN1</i> causing a recognizable phenotype

Toshiki Takenouchi, Mariko Hida, Yoshiaki Sakamoto et al. · American Journal of Medical Genetics Part A · 2013 · 60 citations