Хайлтын үр дүнгүүд - Azuma, Yoshiteru

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions -н Nicole, Sophie, Azuma, Yoshiteru, Bauché, Stéphanie, Eymard, Bruno, Lochmüller, Hanns, Slater, Clarke

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Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report -н Miyamoto, Ryosuke, Sada, Jun, Ota, Koki, Kaneko, Kenitiro, Kusano, Hironori, Azuma, Yoshiteru, Okumura, Akihisa

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Intragenic DOK7 deletion detected by whole-genome sequencing in congenital myasthenic syndromes -н Azuma, Yoshiteru, Töpf, Ana, Evangelista, Teresinha, Lorenzoni, Paulo José, Roos, Andreas, Viana, Pedro, Inagaki, Hidehito, Kurahashi, Hiroki, Lochmüller, Hanns

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SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome -н Rahman, Mohammad Alinoor, Azuma, Yoshiteru, Nasrin, Farhana, Takeda, Jun-ichi, Nazim, Mohammad, Ahsan, Khalid Bin, Masuda, Akio, Engel, Andrew G., Ohno, Kinji

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Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia -н Hiromoto, Yoshitaka, Azuma, Yoshiteru, Suzuki, Yuichi, Hoshina, Megumi, Uchiyama, Yuri, Mitsuhashi, Satomi, Miyatake, Satoko, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Kato, Mitsuhiro, Matsumoto, Naomichi

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De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy -н Hamanaka, Kohei, Imagawa, Eri, Koshimizu, Eriko, Miyatake, Satoko, Tohyama, Jun, Yamagata, Takanori, Miyauchi, Akihiko, Ekhilevitch, Nina, Nakamura, Fumio, Kawashima, Takeshi, Goshima, Yoshio, Mohamed, Ahmad Rithauddin, Ch'ng, Gaik-Siew, Fujita, Atsushi, Azuma, Yoshiteru, Yasuda, Ken, Imamura, Shintaro, Nakashima, Mitsuko, Saitsu, Hirotomo, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Matsumoto, Naomichi

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Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants -н Hamanaka, Kohei, Miyake, Noriko, Mizuguchi, Takeshi, Miyatake, Satoko, Uchiyama, Yuri, Tsuchida, Naomi, Sekiguchi, Futoshi, Mitsuhashi, Satomi, Tsurusaki, Yoshinori, Nakashima, Mitsuko, Saitsu, Hirotomo, Yamada, Kohei, Sakamoto, Masamune, Fukuda, Hiromi, Ohori, Sachiko, Saida, Ken, Itai, Toshiyuki, Azuma, Yoshiteru, Koshimizu, Eriko, Fujita, Atsushi, Erturk, Biray, Hiraki, Yoko, Ch’ng, Gaik-Siew, Kato, Mitsuhiro, Okamoto, Nobuhiko, Takata, Atsushi, Matsumoto, Naomichi

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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea -н Bauché, Stéphanie, O’Regan, Seana, Azuma, Yoshiteru, Laffargue, Fanny, McMacken, Grace, Sternberg, Damien, Brochier, Guy, Buon, Céline, Bouzidi, Nassima, Topf, Ana, Lacène, Emmanuelle, Remerand, Ganaelle, Beaufrere, Anne-Marie, Pebrel-Richard, Céline, Thevenon, Julien, El Chehadeh-Djebbar, Salima, Faivre, Laurence, Duffourd, Yannis, Ricci, Federica, Mongini, Tiziana, Fiorillo, Chiara, Astrea, Guja, Burloiu, Carmen Magdalena, Butoianu, Niculina, Sandu, Carmen, Servais, Laurent, Bonne, Gisèle, Nelson, Isabelle, Desguerre, Isabelle, Nougues, Marie-Christine, Bœuf, Benoit, Romero, Norma, Laporte, Jocelyn, Boland, Anne, Lechner, Doris, Deleuze, Jean-François, Fontaine, Bertrand, Strochlic, Laure, Lochmuller, Hanns, Eymard, Bruno, Mayer, Michèle, Nicole, Sophie

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