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- [21] Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome (vol 86, pg 957, 2010)AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (01) : 161 - 161Pang, Junfeng论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandZhang, Shu论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandYang, Ping论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandHawkins-Lee, Bobbilynn论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandZhong, Jixin论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandZhang, Yushan论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandOchoa, Bernardo论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandAgundez, Jose A. G.论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandVoelckel, Marie-Antoinette论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandFisher, Richard B.论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandGu, Weikuan论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandXiong, Wen-Cheng论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandMei, Lin论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandShe, Jin-Xiong论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, EnglandWang, Cong-Yi论文数: 0 引用数: 0 h-index: 0机构: James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England James Cook Univ Hosp, Teesside Genet Unit, Middlesbrough TS4 3BW, Cleveland, England
- [22] Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosisCLINICAL GENETICS, 2023, 103 (03) : 301 - 309Wang, Xuan论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Sch Clin Med 1, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaLiu, Jun论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaChen, Junyi论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Sch Clin Med 1, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaXu, Xueyan论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaZhong, Yadan论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Sch Clin Med 1, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaXu, Yingping论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaLu, Ping论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaZhou, Jiajian论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaLin, Zhimiao论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaYang, Bin论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R ChinaYang, Chao论文数: 0 引用数: 0 h-index: 0机构: Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China Southern Med Univ, Dermatol Hosp, Guangzhou, Peoples R China
- [23] Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic RicketsAMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (02) : 267 - 272Lorenz-Depiereux, Bettina论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Helmholtz Zentrurn Munchen, Inst Human Genet, D-85764 Neuherberg, Germany German Res Ctr Environm Hlth, Helmholtz Zentrurn Munchen, Inst Human Genet, D-85764 Neuherberg, GermanySchnabel, Dirk论文数: 0 引用数: 0 h-index: 0机构: Charite, Dept Pediat Endocrinol, D-13353 Berlin, Germany German Res Ctr Environm Hlth, Helmholtz Zentrurn Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyTiosano, Dov论文数: 0 引用数: 0 h-index: 0机构: Rambam Med Ctr, Meyer Childrens Hosp, IL-31096 Haifa, Israel Technion Israel Inst Technol, Fac Med, IL-31096 Haifa, Israel German Res Ctr Environm Hlth, Helmholtz Zentrurn Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyHaeusler, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Med Univ Wien, Dept Pediat, A-1090 Vienna, Austria German Res Ctr Environm Hlth, Helmholtz Zentrurn Munchen, Inst Human Genet, D-85764 Neuherberg, GermanyStrom, Tim M.论文数: 0 引用数: 0 h-index: 0机构: German Res Ctr Environm Hlth, Helmholtz Zentrurn Munchen, Inst Human Genet, D-85764 Neuherberg, Germany Tech Univ Munich, Klinikum Rechts Isar, Inst Human Genet, D-81675 Munich, Germany German Res Ctr Environm Hlth, Helmholtz Zentrurn Munchen, Inst Human Genet, D-85764 Neuherberg, Germany
- [24] Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndromeJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (10): : 4113 - 4118Abreu, Ana Paula论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, BrazilTrarbach, Ericka Barbosa论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, Brazilde Castro, Margaret论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med Sch Ribeirao Preto, Clin Hosp, Dept Internal Med, BR-14049900 Ribeirao Preto, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, BrazilFrade Costa, Elaine Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, BrazilVersiani, Beatriz论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Med Sch Ribeirao Preto, Clin Hosp, Dept Internal Med, BR-14049900 Ribeirao Preto, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, BrazilMatias Baptista, Maria Tereza论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Clin Hosp, Dept Internal Med, BR-13083970 Campinas, SP, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, BrazilGarmes, Heraldo Mendes论文数: 0 引用数: 0 h-index: 0机构: Univ Estadual Campinas, Clin Hosp, Dept Internal Med, BR-13083970 Campinas, SP, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, BrazilMendonca, Berenice Bilharinho论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, BrazilLatronico, Ana Claudia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, Brazil Univ Sao Paulo, Hosp Clin,Disciplina Endocrinol & Metab, Fac Med,Dev Endocrinol Unit, Sch Med,Lab Hormone, BR-05403900 Sao Paulo, Brazil
- [25] Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantationSCIENCE TRANSLATIONAL MEDICINE, 2022, 14 (628)论文数: 引用数: h-index:机构:Kioka, Hidetaka论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan论文数: 引用数: h-index:机构:Nishimura, Shunsuke论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanMatsuoka, Ken论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Med Biochem, Grad Sch Frontier Biosci, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanKato, Hisakazu论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Med Biochem, Grad Sch Frontier Biosci, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan论文数: 引用数: h-index:机构:Kuramoto, Yuki论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanTakuwa, Ayako论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanTakahashi, Yusuke论文数: 0 引用数: 0 h-index: 0机构: Natl Cerebral & Cardiovasc Ctr, Dept Mol Pharmacol, Suita, Osaka 5648565, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanSaito, Shigeyoshi论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Med Phys & Engn, Div Hlth Sci, Grad Sch Med, Suita, Osaka 5650871, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biomed Imaging, Suita, Osaka 5648565, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan论文数: 引用数: h-index:机构:Asanuma, Hiroshi论文数: 0 引用数: 0 h-index: 0机构: Meiji Univ Integrat Med, Dept Internal Med, Nantan, Kyoto 6290392, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanFu, Hai Ying论文数: 0 引用数: 0 h-index: 0机构: Natl Cerebral & Cardiovasc Ctr, Dept Clin Med & Dev, Suita, Osaka 5648565, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanShinomiya, Haruki论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanYamada, Noriaki论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan论文数: 引用数: h-index:机构:Sawa, Yoshiki论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Cardiovasc Surg, Grad Sch Med, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanKitakaze, Masafumi论文数: 0 引用数: 0 h-index: 0机构: Natl Cerebral & Cardiovasc Ctr, Dept Clin Med & Dev, Suita, Osaka 5648565, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanTakashima, Seiji论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Med Biochem, Grad Sch Frontier Biosci, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, JapanSakata, Yasushi论文数: 0 引用数: 0 h-index: 0机构: Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan Osaka Univ, Dept Cardiovasc Med, Grad Sch Med, Suita, Osaka 5650871, Japan论文数: 引用数: h-index:机构:
- [26] Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndromeEUROPACE, 2022, 24 (03): : 497 - 510Hirose, Sayako论文数: 0 引用数: 0 h-index: 0机构: Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, Japan Kyoto Univ, Dept Cardiovasc Med, Grad Sch Med, Kyoto, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanMurayama, Takashi论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Cellular & Mol Pharmacol, Grad Sch Med, Bunkyo Ku, 2-1-1 Hongo, Tokyo 1138421, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanTetsuo, Naoyuki论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Cellular & Mol Pharmacol, Grad Sch Med, Bunkyo Ku, 2-1-1 Hongo, Tokyo 1138421, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanHoshiai, Minako论文数: 0 引用数: 0 h-index: 0机构: Yamanashi Prefectural Cent Hosp, Pediat Heart Ctr, Dept Pediat, Kofu, Yamanashi, Japan Univ Yamanashi, Dept Pediat, Chuo, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanKise, Hiroaki论文数: 0 引用数: 0 h-index: 0机构: Showa Univ Hosp, Pediat Heart Dis & Adult Congenital Heart Dis Ctr, Tokyo, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanYoshinaga, Masao论文数: 0 引用数: 0 h-index: 0机构: Natl Hosp Org Kagoshima Med Ctr, Dept Pediat, Kagoshima, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanAoki, Hisaaki论文数: 0 引用数: 0 h-index: 0机构: Osaka Womens & Childrens Hosp, Dept Pediat Cardiol, Osaka, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, Japan论文数: 引用数: h-index:机构:Wuriyanghai, Yimin论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Cardiovasc Med, Grad Sch Med, Kyoto, Japan Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, Japan论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Makiyama, Takeru论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Cardiovasc Med, Grad Sch Med, Kyoto, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanKimura, Takeshi论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Cardiovasc Med, Grad Sch Med, Kyoto, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanSakurai, Takashi论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Cellular & Mol Pharmacol, Grad Sch Med, Bunkyo Ku, 2-1-1 Hongo, Tokyo 1138421, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanHorie, Minoru论文数: 0 引用数: 0 h-index: 0机构: Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanKurebayashi, Nagomi论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Cellular & Mol Pharmacol, Grad Sch Med, Bunkyo Ku, 2-1-1 Hongo, Tokyo 1138421, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, JapanOhno, Seiko论文数: 0 引用数: 0 h-index: 0机构: Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, Japan Shiga Univ Med Sci, Dept Cardiovasc Med, Otsu, Shiga, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, 6-1 Kishibe Shinmachi, Suita, Osaka 5648565, Japan
- [27] Differential impacts of arrhythmia-linked loss-of-function RyR2 mutations on Ca2+ signaling in cardiac cellsBIOPHYSICAL JOURNAL, 2022, 121 (03) : 175A - 175AKurebayashi, Nagomi论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, Japan Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, JapanMurayama, Takashi论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, Japan Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, JapanTetsuo, Naoyuki论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, Japan Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, JapanHirose, Sayako论文数: 0 引用数: 0 h-index: 0机构: Kyoto Univ, Dept Cardiovasc Med, Kyoto, Japan Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, Suita, Osaka, Japan Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, JapanHorie, Minoru论文数: 0 引用数: 0 h-index: 0机构: Shiga Univ, Dept Cardiovasc Med, Kyoto, Japan Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, JapanOhno, Seiko论文数: 0 引用数: 0 h-index: 0机构: Natl Cerebral & Cardiovasc Ctr, Dept Biosci & Genet, Suita, Osaka, Japan Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, JapanSakurai, Takashi论文数: 0 引用数: 0 h-index: 0机构: Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, Japan Juntendo Univ, Dept Pharmacol, Sch Med, Tokyo, Japan
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Reghan论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandWheway, Gabrielle论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSzymanska, Katarzyna论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandNatarajan, Subaashini论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandAbdelhamed, Zakia A.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandMorgan, Joanne E.论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandRoper, Helen论文数: 0 引用数: 0 h-index: 0机构: Birmingham Heartlands Hosp, Dept Paediat, Birmingham B9 5ST, W Midlands, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSanten, Gijs W. E.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandNiks, Erik H.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Dept Neurol, Med Ctr, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, Englandvan der Pol, W. Ludo论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol & Neurosurg, Utrecht, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandLindhout, Dick论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandRaffaello, Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy CNR, Inst Neurosci, Padua, Italy St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandDe Stefani, Diego论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy CNR, Inst Neurosci, Padua, Italy St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, Englandden Dunnen, Johan T.论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSun, Yu论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandGinjaar, Ieke论文数: 0 引用数: 0 h-index: 0机构: Leiden Univ, Med Ctr, Dept Clin Genet, Ctr Human & Clin Genet, Leiden, Netherlands St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSewry, Caroline A.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England Robert Jones & Agnes Hunt Orthopaed Hosp, Wolfson Ctr Inherited Neuromuscular Dis, Oswestry SY10 7AG, Shrops, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandHurles, Matthew论文数: 0 引用数: 0 h-index: 0机构: Wellcome Trust Sanger Inst, Cambridge, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandRizzuto, Rosario论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Biomed Sci, Padua, Italy CNR, Inst Neurosci, Padua, Italy St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandDuchen, Michael R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Consortium Mitochondrial Res, Dept Cell & Dev Biol, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandMuntoni, Francesco论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England MRC, Ctr Neuromuscular Dis, London, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, EnglandSheridan, Eamonn论文数: 0 引用数: 0 h-index: 0机构: St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England St James Univ Hosp, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England
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BiologyMarjolein Kriek论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyRahul Phadke论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyColin A Johnson论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyNicola Y Roberts论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyDavid T Bonthron论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyKaren A Pysden论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyTamieka Whyte论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyIulia Munteanu论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyA Reghan Foley论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyGabrielle Wheway论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyKatarzyna Szymanska论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologySubaashini Natarajan论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyZakia A Abdelhamed论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyJoanne E Morgan论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyHelen Roper论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyGijs W E Santen论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyErik H Niks论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyW Ludo van der Pol论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyDick Lindhout论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyAnna Raffaello论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyDiego De Stefani论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and Clinical Science,Department of Cell and Developmental BiologyJohan T den Dunnen论文数: 0 引用数: 0 h-index: 0机构: Leeds Institute of Biomedical and 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