Fukushima, Yoshimitsu
Shinshu University · Shinshu University Hospital
7 papers on CoChatORCID 0000-0001-6224-4914
Most cited papers
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The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature
Genetic Associations and EpidemiologyForensic and Genetic Research
Cited by 6,057
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Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome
Miyake, N., Kosho, T., Mizumoto, S., Furuichi, T., Hatamochi, A., Nagashima, Y., Arai, E., Takahashi, K., Kawamura, R., Wakui, K., et al. (2010) · Human Mutation
Connective tissue disorders researchProteoglycans and glycosaminoglycans research
Cited by 156
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Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature
Kosho, T., Okamoto, N., Ohashi, H., Tsurusaki, Y., Imai, Y., Hibi‐Ko, Y., Kawame, H., Homma, T., Tanabe, S., Kato, M., et al. (2013) · American Journal of Medical Genetics Part A
Chromatin Remodeling and CancerGenetics and Neurodevelopmental Disorders
Cited by 101
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A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations
Kosho, T., Miyake, N., Hatamochi, A., Takahashi, J., Kato, H., Miyahara, T., Igawa, Y., Yasui, H., Ishida, T., Ono, K., et al. (2010) · American Journal of Medical Genetics Part A
Connective tissue disorders researchGenomics and Rare Diseases
Cited by 88
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Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients
Shimizu, K., Okamoto, N., Miyake, N., Taira, K., Sato, Y., Matsuda, K., Akimaru, N., Ohashi, H., Wakui, K., Fukushima, Y., et al. (2011) · American Journal of Medical Genetics Part A
Connective tissue disorders researchProteoglycans and glycosaminoglycans research
Cited by 68
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Ehlers–Danlos syndrome type VIB with characteristic facies, decreased curvatures of the spinal column, and joint contractures in two unrelated girls
Kosho, T., Takahashi, J., Ohashi, H., Nishimura, G., Kato, H., & Fukushima, Y. (2005) · American Journal of Medical Genetics Part A
Connective tissue disorders researchDermatological and Skeletal Disorders
Cited by 51
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A novel balanced chromosomal translocation found in subjects with schizophrenia and schizotypal personality disorder: Altered l-serine level associated with disruption of PSAT1 gene expression
Ozeki, Y., Pickard, B. S., Kano, S.-I., Malloy, M. P., Zeledon, M., Sun, D. Q., Fujii, K., Wakui, K., Shirayama, Y., Fukushima, Y., et al. (2011) · Neuroscience Research
Schizophrenia research and treatmentAmino Acid Enzymes and Metabolism
Cited by 34
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