未登录 Analysis of intracellular organelles in neurons differentiated from iPSCs of Chédiak-Higashi syndrome patients 对Chédiak-Higashi综合征患者iPSCs来源神经元中细胞器的研究分析 Nakamura, Yasuko; Ito, Masataka; Senoo, Akira; Oh, Shigeharu; Niwa, Akira; Hashimoto, Yu; Hagiwara, Hidetoshi; Uemura, Yasuhiro; Tsuji, Tadataka; Ohnishi, Hidenori; Horikoshi, Yasuo; Shiraishi, Akira; Oshiro, Yumi; Ishimura, Masataka; Hanaki, Ryo; Hirayama, Masahiro; Imai, Kohsuke; Ohara, Osamu; Saito, Megumu K.; Ohsawa, Ikuroh; Nonoyama, Shigeaki 分享 收藏
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Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations 由于DNM1L突变导致的心脏功能异常，通过人诱导多能干细胞评估线粒体功能障碍引起。 Osawa, Madori T.; Fujita, Yasunori; Kagami, Kazuki; Ito, Masataka; Tamura, Yoshiteru; Tateishi, Shoichiro; Take, Junya; Hirose, Fumi; Hagiwara, Hidetoshi; Imai, Kohsuke; Yoshinaga, Daisuke; Baba, Shiro; Osawa, Mitsujiro; Harashima, Hiroko; Murayama, Kei; Akioka, Yuko; Ohtake, Akira; Suzuki, Ikuro; Adachi, Takeshi; Yamazaki, Takeru; Arai, Satoshi; Matsumoto, Shiro; Kitaguchi, Tetsuya; Saito, Megumu K.; Ohsawa, Ikuroh; Nonoyama, Shigeaki 分享 收藏
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity 用于先天性免疫缺陷的非靶向蛋白质组学新生儿筛查平台 Shibata, Hirofumi; Nakajima, Daisuke; Konno, Ryo; Hijikata, Atsushi; Higashiguchi, Motoko; Nihira, Hiroshi; Shimodera, Saeko; Miyamoto, Takayuki; Nishitani-Isa, Masahiko; Hiejima, Eitaro; Izawa, Kazushi; Takita, Junko; Heike, Toshio; Okamura, Ken; Ohnishi, Hidenori; Ishimura, Masataka; Okada, Satoshi; Yamashita, Motoi; Morio, Tomohiro; Kanegane, Hirokazu; Imai, Kohsuke; Nakamura, Yasuko; Nonoyama, Shigeaki; Uchiyama, Toru; Onodera, Masafumi; Nishikomori, Ryuta; Ohara, Osamu; Kawashima, Yusuke; Yasumi, Takahiro 分享 收藏
Pharmacokinetics, safety, and efficacy of 20% subcutaneous immunoglobulin (Ig20Gly) administered weekly or every 2 weeks in Japanese patients with primary immunodeficiency diseases: a phase 3, open-label study Kanegane, Hirokazu; Endo, Akifumi; Okada, Satoshi; Ohnishi, Hidenori; Ishimura, Masataka; Nishikomori, Ryuta; Imai, Kohsuke; Nonoyama, Shigeaki; Muramatsu, Hideki; Wada, Taizo; Kuga, Atsushi; Sakamoto, Ko; Russo-Schwarzbaum, Sharon; Chu, Liang-Hui; McCoy, Barbara; Li, Zhaoyang; Yel, Leman 分享 收藏
A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis Sakura, Fumiaki; Noma, Kosuke; Asano, Takaki; Tanita, Kay; Toyofuku, Etsushi; Kato, Kentaro; Tsumura, Miyuki; Nihira, Hiroshi; Izawa, Kazushi; Mitsui-Sekinaka, Kanako; Konno, Ryo; Kawashima, Yusuke; Mizoguchi, Yoko; Karakawa, Shuhei; Hayakawa, Seiichi; Kawaguchi, Hiroshi; Imai, Kohsuke; Nonoyama, Shigeaki; Yasumi, Takahiro; Ohnishi, Hidenori; Kanegane, Hirokazu; Ohara, Osamu; Okada, Satoshi 分享 收藏
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Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India Rawat, Amit; Sharma, Madhubala; Vignesh, Pandiarajan; Jindal, Ankur Kumar; Suri, Deepti; Das, Jhumki; Joshi, Vibhu; Tyagi, Rahul; Sharma, Jyoti; Kaur, Gurjit; Lau, Yu-Lung; Imai, Kohsuke; Nonoyama, Shigeaki; Lenardo, Michael; Singh, Surjit 分享 收藏
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Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India Rawat, Amit; Tyagi, Rahul; Chaudhary, Himanshi; Pandiarajan, Vignesh; Jindal, Ankur Kumar; Suri, Deepti; Gupta, Anju; Sharma, Madhubala; Arora, Kanika; Bal, Amanjit; Madaan, Priyanka; Saini, Lokesh; Sahu, Jitendra Kumar; Ogura, Yumi; Kato, Tamaki; Imai, Kohsuke; Nonoyama, Shigeaki; Singh, Surjit 分享 收藏
Clinical Courses of IKAROS and CTLA4 Deficiencies: A Systematic Literature Review and Retrospective Longitudinal Study Hoshino, Akihiro; Toyofuku, Etsushi; Mitsuiki, Noriko; Yamashita, Motoi; Okamoto, Keisuke; Yamamoto, Michio; Kanda, Kenji; Yamato, Genki; Keino, Dai; Yoshimoto-Suzuki, Yuri; Kamizono, Junji; Onoe, Yasuhiro; Ichimura, Takuya; Nagao, Mika; Yoshimura, Masaru; Tsugawa, Koji; Igarashi, Toru; Mitsui-Sekinaka, Kanako; Sekinaka, Yujin; Doi, Takehiko; Yasumi, Takahiro; Nakazawa, Yozo; Takagi, Masatoshi; Imai, Kohsuke; Nonoyama, Shigeaki; Morio, Tomohiro; Latour, Sylvain; Kanegane, Hirokazu 分享 收藏
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Wiskott Aldrich Syndrome: A Multi-Institutional Experience From India Suri, Deepti; Rikhi, Rashmi; Jindal, Ankur K.; Rawat, Amit; Sudhakar, Murugan; Vignesh, Pandiarajan; Gupta, Anju; Kaur, Anit; Sharma, Jyoti; Ahluwalia, Jasmina; Bhatia, Prateek; Khadwal, Alka; Raj, Revathi; Uppuluri, Ramya; Desai, Mukesh; Taur, Prasad; Pandrowala, Ambreen A.; Gowri, Vijaya; Madkaikar, Manisha R.; Lashkari, Harsha Prasada; Bhattad, Sagar; Kumar, Harish; Verma, Sanjeev; Imai, Kohsuke; Nonoyama, Shigeaki; Ohara, Osamu; Chan, Koon W.; Lee, Pamela P.; Lau, Yu Lung; Singh, Surjit 分享 收藏
Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India Rawat, Amit; Vignesh, Pandiarajan; Sudhakar, Murugan; Sharma, Madhubala; Suri, Deepti; Jindal, Ankur; Gupta, Anju; Shandilya, Jitendra Kumar; Loganathan, Sathish Kumar; Kaur, Gurjit; Chawla, Sanchi; Patra, Pratap Kumar; Khadwal, Alka; Saikia, Biman; Minz, Ranjana Walker; Aggarwal, Vaishali; Taur, Prasad; Pandrowala, Ambreen; Gowri, Vijaya; Desai, Mukesh; Kulkarni, Manasi; Hule, Gauri; Bargir, Umair; Kambli, Priyanka; Madkaikar, Manisha; Bhattad, Sagar; Ginigeri, Chetan; Kumar, Harish; Jayaram, Ananthvikas; Munirathnam, Deenadayalan; Sivasankaran, Meena; Raj, Revathi; Uppuluri, Ramya; Na, Fouzia; George, Biju; Lashkari, Harsha Prasada; Kalra, Manas; Sachdeva, Anupam; Seth, Shishir; Sabui, Tapas; Gupta, Aman; van Leeuwen, Karin; de Boer, Martin; Chan, Koon Wing; Imai, Kohsuke; Ohara, Osamu; Nonoyama, Shigeaki; Lau, Yu Lung; Singh, Surjit 分享 收藏
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India Vignesh, Pandiarajan; Rawat, Amit; Kumrah, Rajni; Singh, Ankita; Gummadi, Anjani; Sharma, Madhubala; Kaur, Anit; Nameirakpam, Johnson; Jindal, Ankur; Suri, Deepti; Gupta, Anju; Khadwal, Alka; Saikia, Biman; Minz, Ranjana Walker; Sharma, Kaushal; Desai, Mukesh; Taur, Prasad; Gowri, Vijaya; Pandrowala, Ambreen; Dalvi, Aparna; Jodhawat, Neha; Kambli, Priyanka; Madkaikar, Manisha Rajan; Bhattad, Sagar; Ramprakash, Stalin; Raghuram, C. P.; Jayaram, Ananthvikas; Sivasankaran, Meena; Munirathnam, Deenadayalan; Balaji, Sarath; Rajendran, Aruna; Aggarwal, Amita; Singh, Komal; Na, Fouzia; George, Biju; Mehta, Ankit; Lashkari, Harsha Prasada; Uppuluri, Ramya; Raj, Revathi; Bartakke, Sandip; Gupta, Kirti; Sreedharanunni, Sreejesh; Ogura, Yumi; Kato, Tamaki; Imai, Kohsuke; Chan, Koon Wing; Leung, Daniel; Ohara, Osamu; Nonoyama, Shigeaki; Hershfield, Michael; Lau, Yu-Lung; Singh, Surjit 分享 收藏
Hemophagocytic Lymphohistiocytosis in Children with Chronic Granulomatous Disease-Single-Center Experience from North India Vignesh, Pandiarajan; Loganathan, Sathish Kumar; Sudhakar, Murugan; Chaudhary, Himanshi; Rawat, Amit; Sharma, Megha; Shekar, Aravind; Vaiphei, Kim; Kumar, Narender; Sachdeva, Man-Updesh Singh; Jindal, Ankur Kumar; Suri, Deepti; Gupta, Anju; Ray, Pallab; Imai, Kohsuke; Ohara, Osamu; Nonoyama, Shigeaki; Lau, Yu Lung; Singh, Surjit 分享 收藏
Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India Rawat, Amit; Jindal, Ankur Kumar; Suri, Deepti; Vignesh, Pandiarajan; Gupta, Anju; Saikia, Biman; Minz, Ranjana W.; Banday, Aaqib Zaffar; Tyagi, Rahul; Arora, Kanika; Joshi, Vibhu; Mondal, Sanjib; Shandilya, Jitendra Kumar; Sharma, Madhubala; Desai, Mukesh; Taur, Prasad; Pandrowala, Ambreen; Gowri, Vijaya; Sawant-Desai, Sneha; Gupta, Maya; Dalvi, Aparna Dhondi; Madkaikar, Manisha; Aggarwal, Amita; Raj, Revathi; Uppuluri, Ramya; Bhattad, Sagar; Jayaram, Ananthvikas; Lashkari, Harsha Prasad; Rajasekhar, Liza; Munirathnam, Deenadayalan; Kalra, Manas; Shukla, Anuj; Saka, Ruchi; Sharma, Rajni; Garg, Ravinder; Imai, Kohsuke; Nonoyama, Shigeaki; Ohara, Osamu; Lee, Pamela P.; Chan, Koon Wing; Lau, Yu-Lung; Singh, Surjit 分享 收藏
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