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Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Frequency and clinical features of hearing loss caused by STRC deletions
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Published in Journal of human genetics (01.11.2021)
Published in Journal of human genetics (01.11.2021)
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Published in American journal of medical genetics. Part A (01.01.2023)
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Published in Journal of human genetics (01.10.2019)
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Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature
Takano, Kyoko, Shiba, Naoko, Wakui, Keiko, Yamaguchi, Tomomi, Aida, Noriko, Inaba, Yuji, Fukushima, Yoshimitsu, Kosho, Tomoki
Published in American journal of medical genetics. Part A (01.02.2016)
Published in American journal of medical genetics. Part A (01.02.2016)
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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
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Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
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Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization
Moteki, Hideaki, Azaiez, Hela, Sloan-Heggen, Christina M, Booth, Kevin, Nishio, Shin-Ya, Wakui, Keiko, Yamaguchi, Tomomi, Kolbe, Diana L, Iwasa, Yoh-Ichiro, Shearer, A Eliot, Fukushima, Yoshimitsu, Smith, Richard J H, Usami, Shin-Ichi
Published in Annals of otology, rhinology & laryngology (01.11.2016)
Published in Annals of otology, rhinology & laryngology (01.11.2016)
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Sugiyama, Kenjiro, Moteki, Hideaki, Kitajiri, Shin-Ichiro, Kitano, Tomohiro, Nishio, Shin-Ya, Yamaguchi, Tomomi, Wakui, Keiko, Abe, Satoko, Ozaki, Akiko, Motegi, Remi, Matsui, Hirooki, Teraoka, Masato, Kobayashi, Yumiko, Kosho, Tomoki, Usami, Shin-Ichi
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Published in Genes (16.09.2019)
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Shimizu, Kenji, Okamoto, Nobuhiko, Miyake, Noriko, Taira, Katsuaki, Sato, Yumiko, Matsuda, Keiko, Akimaru, Noriko, Ohashi, Hirofumi, Wakui, Keiko, Fukushima, Yoshimitsu, Matsumoto, Naomichi, Kosho, Tomoki
Published in American journal of medical genetics. Part A (01.08.2011)
Published in American journal of medical genetics. Part A (01.08.2011)
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Published in Journal of human genetics (01.08.2013)
Published in Journal of human genetics (01.08.2013)
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Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization
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Published in Chromosome research (01.08.2012)
Published in Chromosome research (01.08.2012)
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Stankiewicz, Paweł, Shaw, Christine J., Dapper, Jason D., Wakui, Keiko, Shaffer, Lisa G., Withers, Marjorie, Elizondo, Leah, Park, Sung-Sup, Lupski, James R.
Published in American journal of human genetics (01.05.2003)
Published in American journal of human genetics (01.05.2003)
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A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
Yoshinaga, Tsuneaki, Nakamura, Katsuya, Ishikawa, Masumi, Yamaguchi, Tomomi, Takano, Kyoko, Wakui, Keiko, Kosho, Tomoki, Yoshida, Kunihiro, Fukushima, Yoshimitsu, Sekijima, Yoshiki
Published in Human genome variation (01.01.2017)
Published in Human genome variation (01.01.2017)
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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, Yuji, Pickard, Benjamin S., Kano, Shin-ichi, Malloy, Mary P., Zeledon, Mariela, Sun, Daniel Q., Fujii, Kumiko, Wakui, Keiko, Shirayama, Yukihiko, Fukushima, Yoshimitsu, Kunugi, Hiroshi, Hashimoto, Kenji, Muir, Walter J., Blackwood, Douglas H., Sawa, Akira
Published in Neuroscience research (01.02.2011)
Published in Neuroscience research (01.02.2011)
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Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)
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Published in American journal of medical genetics. Part A (01.03.2015)
Published in American journal of medical genetics. Part A (01.03.2015)
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