Rezultati pretrage - Imai-Okazaki, Atsuko

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome od 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 od 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 od 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 od 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 od 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 od 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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