Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study
Mutai, Hideki, Suzuki, Naohiro, Shimizu, Atsushi, Torii, Chiharu, Namba, Kazunori, Morimoto, Noriko, Kudoh, Jun, Kaga, Kimitaka, Kosaki, Kenjiro, Matsunaga, Tatsuo
Published in Orphanet journal of rare diseases (28.10.2013)
Published in Orphanet journal of rare diseases (28.10.2013)
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Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype
Takenouchi, Toshiki, Hida, Mariko, Sakamoto, Yoshiaki, Torii, Chiharu, Kosaki, Rika, Takahashi, Takao, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Journal Article
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study
Maruoka, Ryo, Takenouchi, Toshiki, Torii, Chiharu, Shimizu, Atsushi, Misu, Kumiko, Higasa, Koichiro, Matsuda, Fumihiko, Ota, Arihito, Tanito, Katsumi, Kuramochi, Akira, Arima, Yoshimi, Otsuka, Fujio, Yoshida, Yuichi, Moriyama, Keiji, Niimura, Michihito, Saya, Hideyuki, Kosaki, Kenjiro
Published in Genetic testing and molecular biomarkers (01.11.2014)
Published in Genetic testing and molecular biomarkers (01.11.2014)
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Influence of MTHFR and RFC1 polymorphisms on toxicities during maintenance chemotherapy for childhood acute lymphoblastic leukemia or lymphoma
Shimasaki, Noriko, Mori, Tetsuya, Torii, Chiharu, Sato, Reiko, Shimada, Hiroyuki, Tanigawara, Yusuke, Kosaki, Kenjiro, Takahashi, Takao
Published in Journal of pediatric hematology/oncology (01.05.2008)
Published in Journal of pediatric hematology/oncology (01.05.2008)
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Journal Article
Microdeletion of the Down syndrome critical region at 21q22
Fujita, Hideki, Torii, Chiharu, Kosaki, Rika, Yamaguchi, Shinya, Kudoh, Jun, Hayashi, Kumiko, Takahashi, Takao, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.04.2010)
Published in American journal of medical genetics. Part A (01.04.2010)
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Oviposition site selection by herbivorous beetles: a comparison of two thistle feeders, Cassida rubiginosa and Henosepilachna niponica
Fujiyama, Naoyuki, Torii, Chiharu, Akabane, Michiko, Katakura, Haruo
Published in Entomologia experimentalis et applicata (01.07.2008)
Published in Entomologia experimentalis et applicata (01.07.2008)
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Conference Proceeding
Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome
Yagihashi, Tatsuhiko, Torii, Chiharu, Takahashi, Reiko, Omori, Mikimasa, Kosaki, Rika, Yoshihashi, Hiroshi, Ihara, Masahiro, Minagawa-Kawai, Yasuyo, Yamamoto, Junichi, Takahashi, Takao, Kosaki, Kenjiro
Published in Congenital anomalies (01.11.2014)
Published in Congenital anomalies (01.11.2014)
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Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome
Izumi, Kosuke, Okuno, Hironobu, Maeyama, Katsuhiro, Sato, Seiji, Yamamoto, Toshiyuki, Torii, Chiharu, Kosaki, Rika, Takahashi, Takao, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.04.2010)
Published in American journal of medical genetics. Part A (01.04.2010)
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Journal Article
Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay
Hattori, Mitsu, Torii, Chiharu, Yagihashi, Tatsuhiko, Izumi, Kosuke, Suda, Naoto, Ohyama, Kimie, Takahashi, Takao, Moriyama, Keiji, Kosaki, Kenjiro
Published in Genetic testing and molecular biomarkers (01.10.2009)
Published in Genetic testing and molecular biomarkers (01.10.2009)
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Severe craniosynostosis with Noonan syndrome phenotype associated with SHOC2 mutation: Clinical evidence of crosslink between FGFR and RAS signaling pathways
Takenouchi, Toshiki, Sakamoto, Yoshiaki, Miwa, Tomoru, Torii, Chiharu, Kosaki, Rika, Kishi, Kazuo, Takahashi, Takao, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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Journal Article
A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3
Takagi, Masaki, Ishii, Tomohiro, Torii, Chiharu, Kosaki, Kenjiro, Hasegawa, Tomonobu
Published in Pituitary (01.12.2014)
Published in Pituitary (01.12.2014)
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Journal Article
Progressive cognitive decline in an adult patient with cleidocranial dysplasia
Takenouchi, Toshiki, Sato, Wakiro, Torii, Chiharu, Kosaki, Kenjiro
Published in European journal of medical genetics (01.07.2014)
Published in European journal of medical genetics (01.07.2014)
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Journal Article
1p34.3 deletion involving GRIK3: Further clinical implication of GRIK family glutamate receptors in the pathogenesis of developmental delay
Takenouchi, Toshiki, Hashida, Noriko, Torii, Chiharu, Kosaki, Rika, Takahashi, Takao, Kosaki, Kenjiro
Published in American journal of medical genetics. Part A (01.02.2014)
Published in American journal of medical genetics. Part A (01.02.2014)
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Journal Article
Survival of a Male Mosaic for PORCN Mutation with Mild Focal Dermal Hypoplasia Phenotype
Yoshihashi, Hiroshi, Ohki, Hirotaka, Torii, Chiharu, Ishiko, Akira, Kosaki, Kenjiro
Published in Pediatric dermatology (01.09.2011)
Published in Pediatric dermatology (01.09.2011)
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