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- [1] A review of Alstrom syndrome: a rare monogenic ciliopathyINTRACTABLE & RARE DISEASES RESEARCH, 2021, 10 (04) : 257 - 262Choudhury, Avijoy Roy论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, UWA Med Sch, 106-151 Adelaide Terrace, Perth, WA 6004, Australia Univ Western Australia, UWA Med Sch, 106-151 Adelaide Terrace, Perth, WA 6004, AustraliaMunonye, Ifeanyi论文数: 0 引用数: 0 h-index: 0机构: Uniwersytet Jagiellonski, Coll Med, Krakow, Poland Univ Western Australia, UWA Med Sch, 106-151 Adelaide Terrace, Perth, WA 6004, AustraliaSanu, Kevin Paul论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, UWA Med Sch, 106-151 Adelaide Terrace, Perth, WA 6004, Australia Univ Western Australia, UWA Med Sch, 106-151 Adelaide Terrace, Perth, WA 6004, AustraliaIslam, Nipa论文数: 0 引用数: 0 h-index: 0机构: Dhaka Med Coll, Dhaka, Bangladesh Univ Western Australia, UWA Med Sch, 106-151 Adelaide Terrace, Perth, WA 6004, AustraliaGadaga, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Texila Amer Univ, Georgetown, Guyana Univ Western Australia, UWA Med Sch, 106-151 Adelaide Terrace, Perth, WA 6004, Australia
- [2] Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndromeJOURNAL OF MOLECULAR MEDICINE-JMM, 2021, 99 (11): : 1623 - 1638Zhao, Yan论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Neonatal Congenital Heart Lab, Cardiovasc Res Lab, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Childrens Discovery & Innovat Inst, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAWang, Lee-Kai论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Inst Precis Hlth, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAEskin, Ascia论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAKang, Xuedong论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Neonatal Congenital Heart Lab, Cardiovasc Res Lab, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Childrens Discovery & Innovat Inst, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAFajardo, Viviana M.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAMehta, Zubin论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Neonatal Congenital Heart Lab, Cardiovasc Res Lab, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Childrens Discovery & Innovat Inst, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAPineles, Stacy论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Ophthalmol, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USASchmidt, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90027 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USANagiel, Aaron论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Los Angeles, Vis Ctr, Dept Surg, Los Angeles, CA 90027 USA Univ Southern Calif, Roski Eye Inst, Dept Ophthalmol, Los Angeles, CA 90007 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USASatou, Gary论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAGarg, Meena论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAFederman, Myke论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAReardon, Leigh C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Ahmanson UCLA Adult Congenital Heart Dis Ctr, Dept Med, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USALee, Steven L.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USABiniwale, Reshma论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Cardiothorac Surg, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAGrody, Wayne W.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAHalnon, Nancy论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAKhanlou, Negar论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAQuintero-Rivera, Fabiola论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Irvine, Dept Pathol & Lab Med, Irvine, CA USA Univ Calif Irvine, Dept Pediat, Irvine, CA 92717 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAAlejos, Juan C.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USANakano, Atsushi论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Eli & Edythe Broad Stem Cell Res Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAFishbein, Gregory A.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USAVan Arsdell, Glen S.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Cardiothorac Surg, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USANelson, Stanley F.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Inst Precis Hlth, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USATouma, Marlin论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Neonatal Congenital Heart Lab, Cardiovasc Res Lab, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Childrens Discovery & Innovat Inst, Dept Pediat, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Eli & Edythe Broad Stem Cell Res Ctr, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Mol Biol Inst, Los Angeles, CA 90095 USA Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, MacDonald Res Labs 3762, 675 Charles E Young Dr S, Los Angeles, CA 90095 USA
- [3] Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndromeJournal of Molecular Medicine, 2021, 99 : 1623 - 1638Yan Zhao论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesLee-kai Wang论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesAscia Eskin论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesXuedong Kang论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesViviana M. Fajardo论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesZubin Mehta论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesStacy Pineles论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesRyan J. Schmidt论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesAaron Nagiel论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesGary Satou论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesMeena Garg论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesMyke Federman论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesLeigh C. Reardon论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesSteven L. Lee论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesReshma Biniwale论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesWayne W. Grody论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesNancy Halnon论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesNegar Khanlou论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesFabiola Quintero-Rivera论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesJuan C. Alejos论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesAtsushi Nakano论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesGregory A. Fishbein论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesGlen S. Van Arsdell论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesStanley F. Nelson论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research LaboratoriesMarlin Touma论文数: 0 引用数: 0 h-index: 0机构: David Geffen School of Medicine,Department of Pediatrics, 3762 MacDonald Research Laboratories
- [4] Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twinsANNALS OF MEDICINE AND SURGERY, 2024, 86 (04): : 2218 - 2224Ghimire, Sagun论文数: 0 引用数: 0 h-index: 0机构: KIST Med Coll & Teaching Hosp, Dept Surg, Gwarko, Lalitpur, Nepal KIST Med Coll & Teaching Hosp, Dept Surg, Gwarko, Lalitpur, NepalSimkhada, Suman论文数: 0 引用数: 0 h-index: 0机构: KIST Med Coll & Teaching Hosp, Dept Internal Med, Gwarko, Lalitpur, Nepal KIST Med Coll & Teaching Hosp, Dept Surg, Gwarko, Lalitpur, NepalThapa, Samir论文数: 0 引用数: 0 h-index: 0机构: KIST Med Coll & Teaching Hosp, Dept Internal Med, Gwarko, Lalitpur, Nepal KIST Med Coll & Teaching Hosp, Dept Surg, Gwarko, Lalitpur, NepalGhising, Kiran论文数: 0 引用数: 0 h-index: 0机构: KIST Med Coll & Teaching Hosp, Dept Internal Med, Gwarko, Lalitpur, Nepal KIST Med Coll & Teaching Hosp, Dept Surg, Gwarko, Lalitpur, Nepal
- [5] Differentiating Alstrom from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencingOPHTHALMIC GENETICS, 2012, 33 (01) : 18 - 22Aliferis, K.论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, France Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, FranceHelle, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Fac Med, INSERM, Equipe Avenir,Lab Physiopathol Syndromes Rares He, Strasbourg, France Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, FranceGyapay, G.论文数: 0 引用数: 0 h-index: 0机构: IGBMC, Illkirch Graffenstaden, France CNS, Inst Genom, Evry, France Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, FranceDuchatelet, S.论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, FranceStoetzel, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Strasbourg, Fac Med, INSERM, Equipe Avenir,Lab Physiopathol Syndromes Rares He, Strasbourg, France IGBMC, Illkirch Graffenstaden, France Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, FranceMandel, J. -L.论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, FranceDollfus, H.论文数: 0 引用数: 0 h-index: 0机构: Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, France Univ Strasbourg, Fac Med, INSERM, Equipe Avenir,Lab Physiopathol Syndromes Rares He, Strasbourg, France Strasbourg Univ Hosp, Ctr Reference Affect Rares Genet Ophtalmol, CARGO, F-67091 Strasbourg, France
- [6] The Case: Familial occurrence of retinitis pigmentosa, deafness, and nephropathy Alstrom syndrome, a rare ciliopathy with tubulointerstitial renal involvementKIDNEY INTERNATIONAL, 2011, 79 (06) : 691 - 692Izzi, Claudia论文数: 0 引用数: 0 h-index: 0机构: Montichiari Hosp, Div Nephrol 2, Spedali Civili Brescia, I-25018 Montichiari, Italy Montichiari Hosp, Div Nephrol 2, Spedali Civili Brescia, I-25018 Montichiari, ItalyMaffei, Pietro论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med & Surg Sci, Padua, Italy Montichiari Hosp, Div Nephrol 2, Spedali Civili Brescia, I-25018 Montichiari, ItalyMilan, Gabriella论文数: 0 引用数: 0 h-index: 0机构: Univ Padua, Dept Med & Surg Sci, Padua, Italy Montichiari Hosp, Div Nephrol 2, Spedali Civili Brescia, I-25018 Montichiari, ItalyTardanico, Regina论文数: 0 引用数: 0 h-index: 0机构: Spedali Civili Brescia, Dept Pathol, Brescia, Italy Montichiari Hosp, Div Nephrol 2, Spedali Civili Brescia, I-25018 Montichiari, ItalyFoini, Paolo论文数: 0 引用数: 0 h-index: 0机构: Univ Brescia, Dept Nephrol, Brescia, Italy Montichiari Hosp, Div Nephrol 2, Spedali Civili Brescia, I-25018 Montichiari, ItalyMarshall, Jan论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab, Bar Harbor, ME 04609 USA Montichiari Hosp, Div Nephrol 2, Spedali Civili Brescia, I-25018 Montichiari, ItalyMarega, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Udine, Azienda Osped, Div Nephrol Dialysis & Transplantat, I-33100 Udine, Italy Montichiari Hosp, Div Nephrol 2, Spedali Civili Brescia, I-25018 Montichiari, Italy论文数: 引用数: h-index:机构:
- [7] Alstrom syndromeGASTROENTEROLOGIE CLINIQUE ET BIOLOGIQUE, 2009, 33 (10-11): : 981 - 982Belhassan, M.论文数: 0 引用数: 0 h-index: 0机构: CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, Morocco CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, MoroccoOuazzani, L.论文数: 0 引用数: 0 h-index: 0机构: CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, Morocco CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, MoroccoBenzzoubeir, N.论文数: 0 引用数: 0 h-index: 0机构: CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, Morocco CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, MoroccoTlemsani, H.论文数: 0 引用数: 0 h-index: 0机构: CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, Morocco CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, MoroccoKrami, H.论文数: 0 引用数: 0 h-index: 0机构: CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, Morocco CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, MoroccoErrabih, I.论文数: 0 引用数: 0 h-index: 0机构: CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, Morocco CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, MoroccoOuazzani, H.论文数: 0 引用数: 0 h-index: 0机构: CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, Morocco CHU Ibn Sina, Serv Hepatogastroenterol & Proctol, Rabat 10100, Morocco
- [8] Alstrom syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (12) : 1193 - 1202Marshall, Jan D.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab, Genet Coordiantor Alstrom Sydrome Studies, Bar Harbor, ME 04609 USABeck, Sebastian论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab, Genet Coordiantor Alstrom Sydrome Studies, Bar Harbor, ME 04609 USAMaffei, Pietro论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab, Genet Coordiantor Alstrom Sydrome Studies, Bar Harbor, ME 04609 USANaggert, Juergen K.论文数: 0 引用数: 0 h-index: 0机构: Jackson Lab, Genet Coordiantor Alstrom Sydrome Studies, Bar Harbor, ME 04609 USA
- [9] Cardiomyopathy in Alstrom syndromeEUROPEAN HEART JOURNAL, 2002, 23 : 316 - 316Carey, C论文数: 0 引用数: 0 h-index: 0机构: Torbay Hosp, Heart & Lung Unit, Torquay, Devon, EnglandMarshall, J论文数: 0 引用数: 0 h-index: 0机构: Torbay Hosp, Heart & Lung Unit, Torquay, Devon, EnglandNordstrom, A论文数: 0 引用数: 0 h-index: 0机构: Torbay Hosp, Heart & Lung Unit, Torquay, Devon, EnglandParkinson, K论文数: 0 引用数: 0 h-index: 0机构: Torbay Hosp, Heart & Lung Unit, Torquay, Devon, England
- [10] Ciliopathy: Usher SyndromeATLAS OF INHERITED RETINAL DISEASES, 2018, 1085 : 167 - 170Tsang, Stephen H.论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol,Jonas Childrens Vis Care, Bernard & Shirlee Brown Glaucoma Lab,Inst Human N, Columbia Stem Cell Initiat,Vagelos Coll Phys & Su, New York, NY 10027 USA Columbia Univ, Inst Human Nutr, Dept Biomed Engn, Vagelos Coll Phys & Surg, New York, NY 10032 USA Columbia Univ, Inst Human Nutr, Dept Pathol, Vagelos Coll Phys & Surg, New York, NY 10032 USA Columbia Univ, Inst Human Nutr, Dept Cell Biol, Vagelos Coll Phys & Surg, New York, NY 10032 USA Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, NewYork Presbyterian Hosp, New York, NY 10027 USA Columbia Univ, Dept Ophthalmol,Jonas Childrens Vis Care, Bernard & Shirlee Brown Glaucoma Lab,Inst Human N, Columbia Stem Cell Initiat,Vagelos Coll Phys & Su, New York, NY 10027 USAAycinena, Alicia R. P.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA USA Columbia Univ, Dept Ophthalmol,Jonas Childrens Vis Care, Bernard & Shirlee Brown Glaucoma Lab,Inst Human N, Columbia Stem Cell Initiat,Vagelos Coll Phys & Su, New York, NY 10027 USASharma, Tarun论文数: 0 引用数: 0 h-index: 0机构: Columbia Univ, Dept Ophthalmol, Edward S Harkness Eye Inst, NewYork Presbyterian Hosp, New York, NY 10027 USA Columbia Univ, Dept Ophthalmol,Jonas Childrens Vis Care, Bernard & Shirlee Brown Glaucoma Lab,Inst Human N, Columbia Stem Cell Initiat,Vagelos Coll Phys & Su, New York, NY 10027 USA