Zoekresultaten - Emma Tabe Eko Niba

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in <i>G6PC</i> by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Cur... door Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Hiroyuki Awano, Naoko Taniguchi, Yasuhiro Takeshima, Hisahide Nishio, Masakazu Shinohara

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Assessment of Spinal Muscular Atrophy Carrier Status by Determining <i>SMN1</i> Copy Number Using Dried Blood Spots door Yogik Onky Silvana Wijaya, Jamiyan Purevsuren, Nur Imma Fatimah Harahap, Emma Tabe Eko Niba, Yoshihiro Bouike, Dian Kesumapramudya Nurputra, Mawaddah Ar Rochmah, Cempaka Thursina, Sunartini Hapsara, Seiji Yamaguchi, Hisahide Nishio, Masakazu Shinohara

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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan door Tomokazu Kimizu, Shinobu Ida, Kentaro Okamoto, Hiroyuki Awano, Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Shin Okazaki, Hideki Shimomura, Tomoko Lee, Koji Tominaga, Shin Nabatame, Toshio Saito, Takashi Hamazaki, Norio Sakai, Kayoko Saito, Haruo Shintaku, Kandai Nozu, Yasuhiro Takeshima, Kazumoto Iijima, Hisahide Nishio, Masakazu Shinohara

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