Search Results - Naomichi Matsumoto
Naomichi Matsumoto
is a Japanese physician and medical geneticist who identified several causative genes for human diseases, including Sotos syndrome (2002), Marfan syndrome type II (2004), Ohtahara syndrome (2008), West syndrome (2010), Microphthalmia with limb anomalies (2011), Autosomal-recessive cerebellar ataxias (2011), Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC) (2011), Porencephaly (2012), and Coffin–Siris syndrome (2012).Matsumoto has been the editor-in-chief of the scientific journal ''Journal of Human Genetics'' since 2014. Provided by Wikipedia
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Peran Mutasi Gen CRELD1 pada Defek Septum Ventrikel dan Hubungannya dengan Manifestasi Klinis by Sri Endah Rahayuningsih, Haruka Hamanoue, Naomichi Matsumoto
Published 2016Call Number: Loading…Connect to this object online.
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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 by Satomi Mitsuhashi, Martin C. Frith, Naomichi Matsumoto
Published 2021Call Number: Loading…Connect to this object online.
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3
West Syndrome in an Infant With Vitamin B12 Deficiency Born to Autoantibodies Positive Mother by Pin Fee Chong, Masaru Matsukura, Kaoru Fukui, Yoriko Watanabe, Yoriko Watanabe, Naomichi Matsumoto, Ryutaro Kira
Published 2019Call Number: Loading…Connect to this object online.
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An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty by Yuto Arai, Tohru Okanishi, Tetsuya Okazaki, Hiroyuki Awano, Rie Seyama, Yuri Uchiyama, Naomichi Matsumoto, Akiko Tamasaki, Yoshihiro Maegaki
Published 2024Call Number: Loading…Connect to this object online.
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5
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia by Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi, Tohru Yorifuji
Published 2021Call Number: Loading…Connect to this object online.
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A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report by 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
Published 2018Call Number: Loading…Connect to this object online.
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7
Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa by 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
Published 2024Call Number: Loading…Connect to this object online.
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