Showing 1 - 5 results of 5 for search 'Miyuki Tsumura', query time: 0.02s
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Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Speci... by Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Published 2023-10-01
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Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Jap... by Go Tajima, Junko Aisaki, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada
Published 2024-02-01
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Exome sequencing reveals gain-of-function mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients by Marcela Moncada-Vélez, Lucía Victoria Erazo-Borrás, Jesús Armando Álvarez-lvarez, Carlos Andrés Arango, Miyuki Tsumura, Satoshi Okada, Sara Daniela Osorio, Lorena Castro, Natalia González, Catalina Arango, Julio César Orrego, Lina Riaño, Juan Fernando Alzate, Felipe Cabarcas, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco
Published 2018-06-01
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A Novel Homozygous Mutation Destabilizes IKKβ and Leads to Human Combined Immunodeficiency by Tao Qin, Tao Qin, Tao Qin, Tao Qin, Tao Qin, Yanjun Jia, Yanjun Jia, Yanjun Jia, Yanjun Jia, Yanjun Jia, Yuhang Liu, Yuhang Liu, Yuhang Liu, Yuhang Liu, Yuhang Liu, Rongxin Dai, Rongxin Dai, Rongxin Dai, Rongxin Dai, Rongxin Dai, Lina Zhou, Lina Zhou, Lina Zhou, Lina Zhou, Lina Zhou, Satoshi Okada, Miyuki Tsumura, Hidenori Ohnishi, Zenichiro Kato, Zenichiro Kato, Hirokazu Kanegane, Xiulian Sun, Xiaodong Zhao, Xiaodong Zhao, Xiaodong Zhao, Xiaodong Zhao, Xiaodong Zhao
Published 2021-02-01
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