Výsledky vyhledávání - Imai-Okazaki, Atsuko

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome Autor Kishita, Yoshihito, Shimura, Masaru, Kohda, Masakazu, Akita, Masumi, Imai‐Okazaki, Atsuko, Yatsuka, Yukiko, Nakajima, Yoko, Ito, Tetsuya, Ohtake, Akira, Murayama, Kei, Okazaki, Yasushi

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Impact of cardiac myosin light chain kinase gene mutation on development of dilated cardiomyopathy Autor Hodatsu, Akihiko, Fujino, Noboru, Uyama, Yuki, Tsukamoto, Osamu, Imai‐Okazaki, Atsuko, Yamazaki, Satoru, Seguchi, Osamu, Konno, Tetsuo, Hayashi, Kenshi, Kawashiri, Masa‐aki, Asano, Yoshihiro, Kitakaze, Masafumi, Takashima, Seiji, Yamagishi, Masakazu

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Heterozygosity mapping for human dominant trait variants Autor Imai‐Okazaki, Atsuko, Li, Yi, Horpaopan, Sukanya, Riazalhosseini, Yasser, Garshasbi, Masoud, Mosse, Yael P., Zhang, Di, Schrauwen, Isabelle, Sharma, Aarushi, Fann, Cathy S. J., Leal, Suzanne M., Lathrop, Mark, Ott, Jurg

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Mortality of Japanese patients with Leigh syndrome: Effects of age at onset and genetic diagnosis Autor Ogawa, Erika, Fushimi, Takuya, Ogawa‐Tominaga, Minako, Shimura, Masaru, Tajika, Makiko, Ichimoto, Keiko, Matsunaga, Ayako, Tsuruoka, Tomoko, Ishige, Mika, Fuchigami, Tatsuo, Yamazaki, Taro, Kishita, Yoshihito, Kohda, Masakazu, Imai‐Okazaki, Atsuko, Okazaki, Yasushi, Morioka, Ichiro, Ohtake, Akira, Murayama, Kei

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Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis Autor Ebihara, Tomohiro, Nagatomo, Taro, Sugiyama, Yohei, Tsuruoka, Tomoko, Osone, Yoshiteru, Shimura, Masaru, Tajika, Makiko, Matsuhashi, Tetsuro, Ichimoto, Keiko, Matsunaga, Ayako, Akiyama, Nana, Ogawa-Tominaga, Minako, Yatsuka, Yukiko, Nitta, Kazuhiro R, Kishita, Yoshihito, Fushimi, Takuya, Imai-Okazaki, Atsuko, Ohtake, Akira, Okazaki, Yasushi, Murayama, Kei

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Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus Autor Frazier, Ann E., Compton, Alison G., Kishita, Yoshihito, Hock, Daniella H., Welch, AnneMarie E., Amarasekera, Sumudu S.C., Rius, Rocio, Formosa, Luke E., Imai-Okazaki, Atsuko, Francis, David, Wang, Min, Lake, Nicole J., Tregoning, Simone, Jabbari, Jafar S., Lucattini, Alexis, Nitta, Kazuhiro R., Ohtake, Akira, Murayama, Kei, Amor, David J., McGillivray, George, Wong, Flora Y., van der Knaap, Marjo S., Jeroen Vermeulen, R., Wiltshire, Esko J., Fletcher, Janice M., Lewis, Barry, Baynam, Gareth, Ellaway, Carolyn, Balasubramaniam, Shanti, Bhattacharya, Kaustuv, Freckmann, Mary-Louise, Arbuckle, Susan, Rodriguez, Michael, Taft, Ryan J., Sadedin, Simon, Cowley, Mark J., Minoche, André E., Calvo, Sarah E., Mootha, Vamsi K., Ryan, Michael T., Okazaki, Yasushi, Stroud, David A., Simons, Cas, Christodoulou, John, Thorburn, David R.

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