Resultats de la cerca - Naomichi Matsumoto

Peran Mutasi Gen CRELD1 pada Defek Septum Ventrikel dan Hubungannya dengan Manifestasi Klinis per Sri Endah Rahayuningsih, Haruka Hamanoue, Naomichi Matsumoto

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Genome-wide survey of tandem repeats by nanopore sequencing shows that disease-associated repeats are more polymorphic in the general population per Satomi Mitsuhashi, Martin C. Frith, Naomichi Matsumoto

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West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother per Pin Fee Chong, Masaru Matsukura, Kaoru Fukui, Yoriko Watanabe, Yoriko Watanabe, Naomichi Matsumoto, Ryutaro Kira

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An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty per Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki

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Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia per Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi, Tohru Yorifuji

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A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report per Hye Sun Hyun, Seong Heon Kim, Eujin Park, Myung Hyun Cho, Hee Gyung Kang, Hyun Soon Lee, Noriko Miyake, Naomichi Matsumoto, Hiroyasu Tsukaguchi, Hae Il Cheong

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Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa per Samantha Vernaschi Kelmann, Bruno de Oliveira Stephan, Silvia Maria de Macedo Barbosa, Rita Tiziana Verardo Polastrini, Zilda Najjar Prado de Oliveira, Maria Cecília Rivitti-Machado, Gustavo Marquezani Spolador, Rachel Sayuri Honjo, Ken Saida, Naomichi Matsumoto, Chong Ae Kim

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