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English: Sekiguchi Futoshi, Tsurusaki Yoshinori, Okamoto Nobuhiko, Teik Keng Wee, Mizuno Seiji, Suzumura Hiroshi, Isidor Bertrand, Ong Winnie Peitee, Haniffa Muzhirah, White Susan M, Matsuo Mari, Saito Kayoko, Phadke Shubha, Kosho Tomoki, Yap Patrick, Goyal Manisha, Clarke Lorne A, Sachdev Rani, McGillivray George, Leventer Richard J, Patel Chirag, Yamagata Takanori, Osaka Hitoshi, Hisaeda Yoshiya, Ohashi Hirofumi, Shimizu Kenji, Nagasaki Keisuke, Hamada Junpei, Dateki Sumito, Sato Takashi, Chinen Yasutsugu, Awaya Tomonari, Kato Takeo, Iwanaga Kougoro, Kawai Masahiko, Matsuoka Takashi, Shimoji Yoshikazu, Tan Tiong Yang, Kapoor Seema, Gregersen Nerine, Rossi Massimiliano, Marie-Laure Mathieu, McGregor Lesley, Oishi Kimihiko, Mehta Lakshmi, Gillies Greta, Lockhart Paul J, Pope Kate, Shukla Anju, Girisha Katta Mohan, Abdel-Salam Ghada M H, Mowat David, Coman David, Kim Ok Hwa, Cordier Marie-Pierre, Gibson Kate, Milunsky Jeff, Liebelt Jan, Cox Helen, El Chehadeh Salima, Toutain Annick, Saida Ken, Aoi Hiromi, Minase Gaku, Tsuchida Naomi, Iwama Kazuhiro, Uchiyama Yuri, Suzuki Toshifumi, Hamanaka Kohei, Azuma Yoshiteru, Fujita Atsushi, Imagawa Eri, Koshimizu Eriko, Takata Atsushi, Mitsuhashi Satomi, Miyatake Satoko, Mizuguchi Takeshi, Miyake Noriko, Matsumoto Naomichi, Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. , J Hum Genet , vol.64 (12) (p.1173 - 1186) , 2019
English: Murakami Yoshiko, Nguyen Thi Tuyet Mai, Baratang Nissan, Raju Praveen K, Knaus Alexej, Ellard Sian, Jones Gabriela, Lace Baiba, Rousseau Justine, Ajeawung Norbert Fonya, Kamei Atsushi, Minase Gaku, Akasaka Manami, Araya Nami, Koshimizu Eriko, van den Ende Jenneke, Erger Florian, Altmuller Janine, Krumina Zita, Strautmanis Jurgis, Inashkina Inna, Stavusis Janis, El-Gharbawy Areeg, Sebastian Jessica, Puri Ratna Dua, Kulshrestha Samarth, Verma Ishwar C, Maier Esther M, Haack Tobias B, Israni Anil, Baptista Julia, Gunning Adam, Rosenfeld Jill A, Liu Pengfei, Joosten Marieke, Rocha Maria Eugenia, Hashem Mais O, Aldhalaan Hesham M, Alkuraya Fowzan S, Miyatake Satoko, Matsumoto Naomichi, Krawitz Peter M, Rossignol Elsa, Kinoshita Taroh, Campeau Philippe M, Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. , Am J Hum Genet , vol.105 (2) (p.384 - 394) , 2019
English: Takata Atsushi, Nakashima Mitsuko, Saitsu Hirotomo, Mizuguchi Takeshi, Mitsuhashi Satomi, Takahashi Yukitoshi, Okamoto Nobuhiko, Osaka Hitoshi, Nakamura Kazuyuki, Tohyama Jun, Haginoya Kazuhiro, Takeshita Saoko, Kuki Ichiro, Okanishi Tohru, Goto Tomohide, Sasaki Masayuki, Sakai Yasunari, Miyake Noriko, Miyatake Satoko, Tsuchida Naomi, Iwama Kazuhiro, Minase Gaku, Sekiguchi Futoshi, Fujita Atsushi, Imagawa Eri, Koshimizu Eriko, Uchiyama Yuri, Hamanaka Kohei, Ohba Chihiro, Itai Toshiyuki, Aoi Hiromi, Saida Ken, Sakaguchi Tomohiro, Den Kouhei, Takahashi Rina, Ikeda Hiroko, Yamaguchi Tokito, Tsukamoto Kazuki, Yoshitomi Shinsaku, Oboshi Taikan, Imai Katsumi, Kimizu Tomokazu, Kobayashi Yu, Kubota Masaya, Kashii Hirofumi, Baba Shimpei, Iai Mizue, Kira Ryutaro, Hara Munetsugu, Ohta Masayasu, Miyata Yohane, Miyata Rie, Takanashi Jun-Ichi, Matsui Jun, Yokochi Kenji, Shimono Masayuki, Amamoto Masano, Takayama Rumiko, Hirabayashi Shinichi, Aiba Kaori, Matsumoto Hiroshi, Nabatame Shin, Shiihara Takashi, Kato Mitsuhiro, Matsumoto Naomichi, Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. , Nat Commun , vol.10 (1) (p.2506) , 2019
English: Miyamoto T, Shin T, Iijima M, Minase G, Okada H, Saijo Y, Sengoku K, The poly(A) polymerase beta gene may not be associated with azoospermia caused by Sertoli-cell-only syndrome in Japanese patients by comparing patients and normal controls. , J Obstet Gynaecol , vol.39 (3) (p.434 - 436) , 2019
English: Miyamoto Toshinobu, Iijima Masashi, Shin Takeshi, Minase Gaku, Ueda Hiroto, Saijo Yasuaki, Okada Hiroshi, Sengoku Kazuo, An association study of the single-nucleotide polymorphism c190C>T (Arg64Cys) in the human testis-specific histone variant, H3t, of Japanese patients with Sertoli cell-only syndrome. , Asian J Androl , vol.20 (5) (p.527 - 528) , 2018
English: Miyamoto T, Iijima M, Shin T, Minase G, Ueda H, Okada H, Sengoku K, CUL4B mutations are uncommon in Japanese patients with Sertoli-cell-only syndrome and azoospermia. , J Obstet Gynaecol , vol.38 (2) (p.293 - 294) , 2018
English: Minase Gaku, Miyatake Satoko, Nabatame Shin, Arai Hiroshi, Koshimizu Eriko, Mizuguchi Takeshi, Nakashima Mitsuko, Miyake Noriko, Saitsu Hirotomo, Miyamoto Toshinobu, Sengoku Kazuo, Matsumoto Naomichi, An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination. , J Hum Genet , vol.62 (11) (p.997 - 1000) , 2017
English: Ueda Hiroto, Miyamoto Toshinobu, Minase Gaku, Sengoku Kazuo, Prenatal diagnosis of a body stalk anomaly by a combination of ultrasonography and foetal magnetic resonance imaging. , J Obstet Gynaecol , vol.37 (7) (p.946 - 947) , 2017
English: Minase Gaku, Miyamoto Toshinobu, Miyagawa Yasushi, Iijima Masashi, Ueda Hiroto, Saijo Yasuaki, Namiki Mikio, Sengoku Kazuo, Single-nucleotide polymorphisms in the human RAD21L gene may be a genetic risk factor for Japanese patients with azoospermia caused by meiotic arrest and Sertoli cell-only syndrome. , Hum Fertil (Camb) , vol.20 (3) (p.217 - 220) , 2017
English: Miyamoto Toshinobu, Minase Gaku, Shin Takeshi, Ueda Hiroto, Okada Hiroshi, Sengoku Kazuo, Human male infertility and its genetic causes. , Reprod Med Biol , vol.16 (2) (p.81 - 88) , 2017
English: Miyamoto T, Koh E, Tsujimura A, Miyagawa Y, Minase G, Ueda Y, Namiki M, Sengoku K, SIN3A mutations are rare in men with azoospermia. , Andrologia , vol.47 (9) (p.1083 - 1085) , 2015
English: Miyamoto Toshinobu, Minase Gaku, Okabe Kimika, Ueda Hiroto, Sengoku Kazuo, Male infertility and its genetic causes. , J Obstet Gynaecol Res , vol.41 (10) (p.1501 - 1505) , 2015
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