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- [41] Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndromeScientific Reports, 12Joel T. Gibson论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalMary Huang论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalMarina Shenelli Croos Dabrera论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalKrushnam Shukla论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalHansjörg Rothe论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalPascale Hilbert论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalConstantinos Deltas论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalHelen Storey论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalBeata S. Lipska-Ziętkiewicz论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalMelanie M. Y. Chan论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalOmid Sadeghi-Alavijeh论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalDaniel P. Gale论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalAgne Cerkauskaite论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne HospitalJudy Savige论文数: 0 引用数: 0 h-index: 0机构: The University of Melbourne,Department of Medicine (Melbourne Health and Northern Health), Royal Melbourne Hospital
- [42] Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variantsNEPHROLOGY DIALYSIS TRANSPLANTATION, 2024, 39 (09) : 1442 - 1448Furlano, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainPilco-Teran, Melissa论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainPybus, Marc论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Inst Recerca St Pau, Mol Biol Lab, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainMartinez, Victor论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen Arrixaca, Nephrol Dept, Arrixaca, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainAza-Carmona, Miriam论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Inst Recerca St Pau, Mol Biol Lab, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainRius Peris, Asuncion论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Castellon, Nephrol Dept, Castellon de La Plana, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainPerez-Gomez, Vanessa论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz, Nephrol Dept, Madrid, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainBerna, Gerson论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Nephrol Dept, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainMazon, Jaime论文数: 0 引用数: 0 h-index: 0机构: Hosp Valdecilla, Nephrol Dept, Santander, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainHernandez, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Radiol Dept, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainFayos de Arizon, Leonor论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Nephrol Dept, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainViera, Elizabet论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Nephrol Dept, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainGich, Ignasi论文数: 0 引用数: 0 h-index: 0机构: Consorcio Invest Biomed Red Epidemiol & Salud Publ, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainPerez, Hugo Vergara论文数: 0 引用数: 0 h-index: 0机构: Hosp Gen Univ Castellon, Nephrol Dept, Castellon de La Plana, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainGoma-Garces, Elena论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Fdn Jimenez Diaz, Nephrol Dept, Madrid, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainAlbero Dolon, Jose Luis论文数: 0 引用数: 0 h-index: 0机构: Hosp Univ Virgen Arrixaca, Nephrol Dept, Arrixaca, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainArs, Elisabet论文数: 0 引用数: 0 h-index: 0机构: Fundacio Puigvert, Inst Recerca St Pau, Mol Biol Lab, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, SpainTorra, Roser论文数: 0 引用数: 0 h-index: 0机构: Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, Spain Univ Autonoma Barcelona UAB, Inst Recerca St Pau, Dept Med, Inherited Kidney Dis,Nephrol Dept,Fundacio Puigver, Barcelona, Spain
- [43] Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosisKIDNEY INTERNATIONAL, 2014, 86 (06) : 1253 - 1259Malone, Andrew F.论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Univ, Div Nephrol, Dept Pediat, Med Ctr, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USAPhelan, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Univ, Div Nephrol, Dept Pediat, Med Ctr, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USAHall, Gentzon论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Univ, Div Nephrol, Dept Pediat, Med Ctr, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USACetincelik, Umran论文数: 0 引用数: 0 h-index: 0机构: Sisli Etfal Training & Res Hosp, Dept Genet, Istanbul, Turkey Duke Mol Physiol Inst, Durham, NC USAHomstad, Alison论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USAAlonso, Andrea S.论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USAJiang, Ruiji论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USALindsey, Thomas B.论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Mol Physiol Inst, Durham, NC USAWu, Guanghong论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Mol Physiol Inst, Durham, NC USASparks, Matthew A.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Div Nephrol, Dept Pediat, Med Ctr, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USASmith, Stephen R.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Div Nephrol, Dept Pediat, Med Ctr, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USAWebb, Nicholas J. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Manchester, Royal Manchester Childrens Hosp, Dept Pediat Nephrol, Manchester, Lancs, England Univ Manchester, NIHR Wellcome Trust Childrens Clin Res Facil, Manchester Acad Hlth Sci Ctr, Royal Manchester Childrens Hosp, Manchester, Lancs, England Duke Mol Physiol Inst, Durham, NC USAKalra, Philip A.论文数: 0 引用数: 0 h-index: 0机构: Hope Hosp, Salford M6 8HD, Lancs, England Duke Mol Physiol Inst, Durham, NC USAAdeyemo, Adebowale A.论文数: 0 引用数: 0 h-index: 0机构: NHGRI, Ctr Res Genom & Global Hlth, NIH, Bethesda, MD 20892 USA Duke Mol Physiol Inst, Durham, NC USAShaw, Andrey S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Dept Pathol & Immunol, St Louis, MO USA Duke Mol Physiol Inst, Durham, NC USAConlon, Peter J.论文数: 0 引用数: 0 h-index: 0机构: Beaumont Hosp, Beaumont Kidney Ctr, Royal Coll Surg, Dublin 9, Ireland Duke Mol Physiol Inst, Durham, NC USAJennette, J. Charles论文数: 0 引用数: 0 h-index: 0机构: Univ N Carolina, Dept Pathol & Lab Med, Chapel Hill, NC USA Duke Mol Physiol Inst, Durham, NC USAHowell, David N.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USAWinn, Michelle P.论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Univ, Div Nephrol, Dept Pediat, Med Ctr, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USAGbadegesin, Rasheed A.论文数: 0 引用数: 0 h-index: 0机构: Duke Mol Physiol Inst, Durham, NC USA Duke Univ, Med Ctr, Dept Pediat, Durham, NC 27710 USA Duke Mol Physiol Inst, Durham, NC USA
- [44] AUTOSOMAL-DOMINANT ALPORT SYNDROME LINKED TO MARKERS ON 2Q FLANKING THE COL4A3 COL4A4 GENESJOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 1994, 5 (03): : 647 - 647JEFFERSON, JA论文数: 0 引用数: 0 h-index: 0机构: BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELANDHUGHES, AE论文数: 0 引用数: 0 h-index: 0机构: BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELANDHILL, C论文数: 0 引用数: 0 h-index: 0机构: BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELANDMAXWELL, AP论文数: 0 引用数: 0 h-index: 0机构: BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELANDDOHERTY, CC论文数: 0 引用数: 0 h-index: 0机构: BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELANDNEVIN, NC论文数: 0 引用数: 0 h-index: 0机构: BELFAST CITY HOSP,DEPT NEPHROL,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND
- [45] GENETIC-MAPPING OF ALPP, CGC, COL4A3 AND COL4A4, 4 GENES LOCATED AT THE DISTAL PART OF CHROMOSOME-2QCYTOGENETICS AND CELL GENETICS, 1993, 64 (02): : 92 - 92KRUSE, TA论文数: 0 引用数: 0 h-index: 0机构: AARHUS UNIV,INST HUMAN GENET,DK-8000 AARHUS,DENMARKFLINT, T论文数: 0 引用数: 0 h-index: 0机构: AARHUS UNIV,INST HUMAN GENET,DK-8000 AARHUS,DENMARKREEDERS, ST论文数: 0 引用数: 0 h-index: 0机构: AARHUS UNIV,INST HUMAN GENET,DK-8000 AARHUS,DENMARKHERTZ, JM论文数: 0 引用数: 0 h-index: 0机构: AARHUS UNIV,INST HUMAN GENET,DK-8000 AARHUS,DENMARK
- [46] Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?CLINICAL GENETICS, 2024, 105 (04) : 406 - 414Riedhammer, Korbinian M.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, TUM Sch Med & Hlth, Dept Nephrol, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanySimmendinger, Hannes论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyTasic, Velibor论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Med Fac Skopje, Skopje, North Macedonia Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, Germany论文数: 引用数: h-index:机构:Abazi-Emini, Nora论文数: 0 引用数: 0 h-index: 0机构: Univ Childrens Hosp, Med Fac Skopje, Skopje, North Macedonia Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyStajic, Natasa论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Inst Mother & Child Hlth Care Serbia Dr Vukan Cupi, Fac Med, Dept Nephrol, Belgrade, Serbia Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyBerutti, Riccardo论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyWeidenbusch, Marc论文数: 0 引用数: 0 h-index: 0机构: Ludwig Maximilians Univ Munchen, Med Klin & Poliklin 4, Nephrol Zentrum, Klinikum Univ Munchen, Munich, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyPatzer, Ludwig论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp St Elisabeth & St Barbara, Dept Pediat Nephrol, Halle, Saale, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyLungu, Adrian论文数: 0 引用数: 0 h-index: 0机构: Fundeni Clin Inst, Pediat Nephrol Dept, Bucharest, Romania Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyMilosevski-Lomic, Gordana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Inst Mother & Child Hlth Care Serbia Dr Vukan Cupi, Fac Med, Dept Nephrol, Belgrade, Serbia Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyGuenthner, Roman论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, TUM Sch Med & Hlth, Dept Nephrol, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyBraunisch, Matthias C.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, TUM Sch Med & Hlth, Dept Nephrol, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyComic, Jasmina论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, TUM Sch Med & Hlth, Dept Nephrol, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, GermanyHoefele, Julia论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, Germany Tech Univ Munich, Inst Human Genet, Sch Med, Klinikum Rechts Isar, Trogerstr 32, D-81675 Munich, Germany Tech Univ Munich, Inst Human Genet, TUM Sch Med & Hlth, Klinikum Rechts Isar, Munich, Germany
- [47] Autosomal-dominant Alport syndrome:: Natural history of a disease due to COL4A3 or COL4A4 geneKIDNEY INTERNATIONAL, 2004, 65 (05) : 1598 - 1603Pescucci, C论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyMari, F论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyLongo, I论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyVogiatzi, P论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyCaselli, R论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyScala, E论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyAbaterusso, C论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyGusmano, R论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalySeri, M论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyMiglietti, N论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyBresin, E论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, ItalyRenieri, A论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Policlin Scotte, Dept Mol Biol, I-53100 Siena, Italy
- [48] Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndromeMOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (05):Zhang, Yanqin论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R ChinaDing, Jie论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R ChinaZhang, Hongwen论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R ChinaYao, Yong论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R ChinaXiao, Huijie论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R ChinaWang, Suxia论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 1, Dept Electron Microscopy, Beijing, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R ChinaWang, Fang论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China
- [49] The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familia Hematuria in a Large Chinese FamilyCYTOGENETIC AND GENOME RESEARCH, 2018, 154 (03) : 132 - 136Li, Ang论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaCui, Ying-Xia论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaLv, Xing论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaLiu, Jian-Hong论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaGao, Er-Zhi论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Natl Clin Res Ctr Kidney Dis, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaWei, Xiu-Xiu论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaXia, Xin-Yi论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaGao, Chun-Lin论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Dept Pediat Nephrol, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaLiu, Feng-Xia论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaXia, Zheng-Kun论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Dept Pediat Nephrol, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaAsan论文数: 0 引用数: 0 h-index: 0机构: BGI Shenzhen, BGI Tianjin, Binhai Genom Inst, Tianjin, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaLiu, Zhi-Hong论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Natl Clin Res Ctr Kidney Dis, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R ChinaLi, Xiao-Jun论文数: 0 引用数: 0 h-index: 0机构: Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R China Nanjing Univ, Dept Chem, State Key Lab Analyt Chem Life Sci, Nanjing, Jiangsu, Peoples R China Nanjing Univ, Sch Med, Jinling Hosp, Inst Clin Lab Sci, 305 East Zhongshan Rd, Nanjing 210002, Jiangsu, Peoples R China
- [50] Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 familiesCLINICAL GENETICS, 2015, 88 (05) : 456 - 461Sa, M. J. Nabais论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugal Univ Porto, Unit Res & Dev Nephrol FCT 725, Fac Med, P-4100 Oporto, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalStorey, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalFlinter, F.论文数: 0 引用数: 0 h-index: 0机构: Guys & St Thomas Hosp Natl Hlth Serv Fdn Trust, Genet Ctr, London, England Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalNagel, M.论文数: 0 引用数: 0 h-index: 0机构: Ctr Nephrol & Metab Dis, Weisswasser, Germany Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalSampaio, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Unit Res & Dev Nephrol FCT 725, Fac Med, P-4100 Oporto, Portugal Hosp Sao Joao, Dept Nephrol, Oporto, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalCastro, R.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Tras Os Montes & Alto Douro, Dept Nephrol, Vila Real, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalAraujo, J. A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Marmeleiros, Dept Nephrol, Funchal, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalGaspar, M. A.论文数: 0 引用数: 0 h-index: 0机构: Fresenius Med Care, NephroCare Restelo, Dialysis Clin, Lisbon, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalSoares, C.论文数: 0 引用数: 0 h-index: 0机构: Hosp Braga, Dept Nephrol, Braga, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalOliveira, A.论文数: 0 引用数: 0 h-index: 0机构: Dialysis Clin Paredes, Diaverum, Paredes, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalHenriques, A. C.论文数: 0 引用数: 0 h-index: 0机构: Fresenius Med Care, Dialysis Clin, NephroCare Braga, Braga, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugalda Costa, A. G.论文数: 0 引用数: 0 h-index: 0机构: Hosp Santa Maria, Dept Nephrol, Lisbon, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalAbreu, C. P.论文数: 0 引用数: 0 h-index: 0机构: Dialysis Clin Lumiar, Lisbon, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalPonce, P.论文数: 0 引用数: 0 h-index: 0机构: Fresenius Med Care, NephroCare Lumiar, Dialysis Clin, Lisbon, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalAlves, R.论文数: 0 引用数: 0 h-index: 0机构: Fresenius Med Care, Dialysis Clin, NephroCare Viseu, Viseu, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalPinho, L.论文数: 0 引用数: 0 h-index: 0机构: Dialysis Clin Paredes, Diaverum, Paredes, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalSilva, S. E.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sao Joao, Dept Ophthalmol, Oporto, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugalde Moura, C. P.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sao Joao, Dept Otolaryngol, Oporto, Portugal Hosp Sao Joao, Med Genet Outpatient Clin, Oporto, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalMendonca, L.论文数: 0 引用数: 0 h-index: 0机构: Hosp Braga, Dept Ophthalmol, Braga, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugal论文数: 引用数: h-index:机构:Pestana, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Unit Res & Dev Nephrol FCT 725, Fac Med, P-4100 Oporto, Portugal Hosp Sao Joao, Dept Nephrol, Oporto, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, PortugalAlves, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugal Univ Porto, Dept Genet, Fac Med, P-4100 Oporto, Portugal论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构: