共 50 条
- [21] A novel CACNA1D mutation leading to severe diazoxide unresponsive CHIHORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 258 - 258Melikyan, Maria论文数: 0 引用数: 0 h-index: 0机构: Yerevan State Med Univ, Yerevan, Armenia Muratsan Univ Hosp, Yerevan, Armenia Inst Pediat Endocrinol, Moscow, Russia Yerevan State Med Univ, Yerevan, ArmeniaGubaeva, Diliara论文数: 0 引用数: 0 h-index: 0机构: Inst Pediat Endocrinol, Moscow, Russia Alder Hey Childrens Hosp, Liverpool, Merseyside, England Yerevan State Med Univ, Yerevan, ArmeniaNovokreschennih, Evgeniya论文数: 0 引用数: 0 h-index: 0机构: Inst Pediat Endocrinol, Moscow, Russia Yerevan State Med Univ, Yerevan, Armenia
- [22] Correction to: De novo CACNA1D Ca2+ channelopathies: clinical phenotypes and molecular mechanismPflügers Archiv - European Journal of Physiology, 2020, 472 : 1105 - 1105Nadine J. Ortner论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences InnsbruckTeresa Kaserer论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences InnsbruckJ. Nathan Copeland论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences InnsbruckJörg Striessnig论文数: 0 引用数: 0 h-index: 0机构: University of Innsbruck,Department of Pharmacology and Toxicology, Institute of Pharmacy, Center for Molecular Biosciences Innsbruck
- [23] CaV1.3 (Cacna1d) Gain-of-Function De Novo Missense Mutations are Associated with CNS DisordersBIOPHYSICAL JOURNAL, 2017, 112 (03) : 109A - 109APinggera, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Pharmacol & Toxicol, Innsbruck, Austria Univ Innsbruck, Pharmacol & Toxicol, Innsbruck, AustriaMackenroth, Luisa论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Dresden, Inst Clin Genet, Dresden, Germany Univ Innsbruck, Pharmacol & Toxicol, Innsbruck, AustriaStriessnig, Jorg论文数: 0 引用数: 0 h-index: 0机构: Univ Innsbruck, Pharmacol & Toxicol, Innsbruck, Austria Univ Innsbruck, Pharmacol & Toxicol, Innsbruck, Austria
- [24] Primary aldosteronism associated with a germline variant in CACNA1HBMJ CASE REPORTS, 2019, 12 (05)Wulczyn, Kendra论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Med, San Francisco, CA 94143 USA UCSF, Dept Med, San Francisco, CA 94143 USAPerez-Reyes, Edward论文数: 0 引用数: 0 h-index: 0机构: Univ Virginia, Dept Pharmacol, Charlottesville, VA 22908 USA UCSF, Dept Med, San Francisco, CA 94143 USANussbaum, Robert L.论文数: 0 引用数: 0 h-index: 0机构: Invitae Corp, San Francisco, CA USA UCSF, Dept Med, San Francisco, CA 94143 USAPark, Meyeon论文数: 0 引用数: 0 h-index: 0机构: UCSF, Dept Med, San Francisco, CA 94143 USA UCSF, Dept Med, San Francisco, CA 94143 USA
- [25] Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han ChineseScientific Reports, 5Fanglin Guan论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Environment and Genes Related to Diseases,Department of Forensic PsychiatryLu Li论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Environment and Genes Related to Diseases,Department of Forensic PsychiatryChuchu Qiao论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Environment and Genes Related to Diseases,Department of Forensic PsychiatryGang Chen论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Environment and Genes Related to Diseases,Department of Forensic PsychiatryTinglin Yan论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Environment and Genes Related to Diseases,Department of Forensic PsychiatryTao Li论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Environment and Genes Related to Diseases,Department of Forensic PsychiatryTianxiao Zhang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Environment and Genes Related to Diseases,Department of Forensic PsychiatryXinshe Liu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Environment and Genes Related to Diseases,Department of Forensic Psychiatry
- [26] Late diagnosis of Severe Delayed Postpartum Preeclampsia with a Rare CACNA1D MutationJOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2017, 70 (16) : C20 - C20Wang, Huan论文数: 0 引用数: 0 h-index: 0机构: Fujian Prov Cardiovasc Dis Inst, Fuzhou, Fujian, Peoples R China Fujian Prov Cardiovasc Dis Inst, Fuzhou, Fujian, Peoples R ChinaChen, Hui论文数: 0 引用数: 0 h-index: 0机构: Fujian Prov Cardiovasc Dis Inst, Fuzhou, Fujian, Peoples R China Fujian Prov Cardiovasc Dis Inst, Fuzhou, Fujian, Peoples R China
- [27] Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han ChineseSCIENTIFIC REPORTS, 2015, 5Guan, Fanglin论文数: 0 引用数: 0 h-index: 0机构: Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R China Inst Human Genom & Forens Sci, Xian, Peoples R China Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R ChinaLi, Lu论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Med & Forens, Key Lab, Natl Minist Hlth Forens Sci, Xian 710049, Peoples R China Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R ChinaQiao, Chuchu论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Med & Forens, Key Lab, Natl Minist Hlth Forens Sci, Xian 710049, Peoples R China Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R ChinaChen, Gang论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Med & Forens, Key Lab, Natl Minist Hlth Forens Sci, Xian 710049, Peoples R China Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R ChinaYan, Tinglin论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Med & Forens, Key Lab, Natl Minist Hlth Forens Sci, Xian 710049, Peoples R China Xi An Jiao Tong Univ, Sch Med & Forens, Dept Forens Psychiat, Xian 710049, Peoples R China Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R ChinaLi, Tao论文数: 0 引用数: 0 h-index: 0机构: Xi An Jiao Tong Univ, Sch Med & Forens, Key Lab, Natl Minist Hlth Forens Sci, Xian 710049, Peoples R China Xi An Jiao Tong Univ, Sch Med & Forens, Dept Forens Psychiat, Xian 710049, Peoples R China Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R ChinaZhang, Tianxiao论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Psychiat, St Louis, MO USA Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R ChinaLiu, Xinshe论文数: 0 引用数: 0 h-index: 0机构: Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R China Xi An Jiao Tong Univ, Sch Med & Forens, Key Lab, Natl Minist Hlth Forens Sci, Xian 710049, Peoples R China Xi An Jiao Tong Univ, Sch Med & Forens, Dept Forens Psychiat, Xian 710049, Peoples R China Minist Educ, Key Lab Environm & Genes Related Dis, Xian, Peoples R China
- [28] PREVALENCE AND CLINICAL PHENOTYPE OF PRIMARY ALDOSTERONISM IN PRIMARY CARE HYPERTENSIVESJOURNAL OF HYPERTENSION, 2017, 35 : E180 - E180Monticone, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Turin, Dept Med Sci, Turin, ItalyBurrello, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Turin, Dept Med Sci, Turin, ItalyTizzani, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Turin, Dept Med Sci, Turin, ItalyBertello, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Turin, Dept Med Sci, Turin, ItalyViola, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Turin, Dept Med Sci, Turin, ItalyBuffolo, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Turin, Dept Med Sci, Turin, ItalyWilliams, T. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Ludwig Maximilians Univ Munchen, Klinikum Univ Munchen, Med Klin & Poliklin 4, Munich, Germany Univ Turin, Dept Med Sci, Turin, Italy论文数: 引用数: h-index:机构:Veglio, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Turin, Dept Med Sci, Turin, ItalyMulatero, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Dept Med Sci, Turin, Italy Univ Turin, Dept Med Sci, Turin, Italy
- [29] The levels of Pdx1/insulin, Cacna1c and Cacna1d, and ββ-cell mass in a rat model of intrauterine undernutritionJOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2011, 24 (03): : 437 - 443Xu, Yan-Ping论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Childrens Hosp, Dept Endocrinol, Hangzhou 310003, Zhejiang, Peoples R ChinaLiang, Li论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Childrens Hosp, Dept Endocrinol, Hangzhou 310003, Zhejiang, Peoples R China Zhejiang Univ, Sch Med, Childrens Hosp, Dept Endocrinol, Hangzhou 310003, Zhejiang, Peoples R ChinaWang, Xiu-Min论文数: 0 引用数: 0 h-index: 0机构: Zhejiang Univ, Sch Med, Childrens Hosp, Dept Endocrinol, Hangzhou 310003, Zhejiang, Peoples R China
- [30] Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significanceJOURNAL OF HUMAN GENETICS, 2019, 64 (02) : 153 - 160论文数: 引用数: h-index:机构:Schrauwen, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Stat Genet, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanLaza, Syed Han论文数: 0 引用数: 0 h-index: 0机构: Shaheed Zulfiqar Ali Bhutto Med Univ Islamabad, HBS Med Coll, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanLee, Kwanghyuk论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Stat Genet, Dept Mol & Human Genet, Houston, TX 77030 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, Pakistan论文数: 引用数: h-index:机构:Chakchouk, Imen论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Stat Genet, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, Pakistan论文数: 引用数: h-index:机构:Acharya, Anushree论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Stat Genet, Dept Mol & Human Genet, Houston, TX 77030 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanAbbe, Izoduwa论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Stat Genet, Dept Mol & Human Genet, Houston, TX 77030 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanUmair, Muhammad论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan MNGHA, KAIMRC, Med Genom Res Dept, POB 3660, Riyadh 11481, Saudi Arabia Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, Pakistan论文数: 引用数: h-index:机构:Ullah, Han论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Shaheed Benazir Bhutto Univ, Dept Chem, Sheringal, Upper Dir, Pakistan Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanShah, Khadim论文数: 0 引用数: 0 h-index: 0机构: Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biochem, Islamabad, Pakistan Comsats Univ Islamabad, Dept Environm Sci, Abbottabad Campus, Islamabad, Pakistan Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanBamshad, Michael J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Dept Pediat, Seattle, WA 98195 USA Univ Washington, Seattle, WA 98195 USA Seattle Childrens Hosp, Seattle, WA USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanNickerson, Deborah A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, Pakistan论文数: 引用数: h-index:机构:Leal, Suzanne M.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Ctr Stat Genet, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanAnderson, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanAnnable, Marcus论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanBlue, Elizabeth E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanBuckingham, Kati J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanChin, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanChong, Jessica X.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanCornejo, Rodolfo, Jr.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanDavis, Colleen P.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanFrazar, Christopher论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, Pakistan论文数: 引用数: h-index:机构:Jarvik, Gail P.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanJohanson, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanKang, Ashley N.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanKolar, Tom论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanKrauter, Stephanie A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanMarvin, Colby T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanMcGee, Sean论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanMcGoldrick, Daniel J.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, Pakistan论文数: 引用数: h-index:机构:Phillips, Sam W.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanPijoan, Jessica论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanRichardson, Matthew A.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanRobertson, Peggy D.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanSlattery, Krystal论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanShively, Kathryn M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanSmith, Joshua D.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanTackett, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanTattersall, Alice E.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanWegener, Marc论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanWeiss, Jeffrey M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanWheeler, Marsha M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanYi, Qian论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, PakistanZhang, Di论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Quaid I Azam Univ Islamabad, Fac Biol Sci, Dept Biotechnol, Islamabad, Pakistan