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- [21] Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutationKIDNEY INTERNATIONAL, 2000, 58 (05) : 1870 - 1875van der Loop, FTL论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsHeidet, L论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsTimmer, EDJ论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, Netherlandsvan der Bosch, BJC论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsLeinonen, A论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsAntignac, C论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsJefferson, JA论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsMaxwell, AP论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsMonnens, LAH论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsSchröder, CH论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, NetherlandsSmeets, HJML论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Dept Mol Genet & Cell Biol, NL-6201 BL Maastricht, Netherlands
- [22] Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport SyndromeGENES, 2023, 14 (10)Levy, Michal论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel Tel Aviv Univ, Sch Med, POB 39040, Tel Aviv, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelBazak, Lily论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelLev-El, Noa论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelGreenberg, Rotem论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelKropach, Nesia论文数: 0 引用数: 0 h-index: 0机构: Tel Aviv Univ, Sch Med, POB 39040, Tel Aviv, Israel Schneider Childrens Med Ctr Israel, Pediat Genet Unit, IL-4920235 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelBasel-Salmon, Lina论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel Tel Aviv Univ, Sch Med, POB 39040, Tel Aviv, Israel Felsenstein Med Res Ctr, IL-4920235 Petah Tiqwa, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, IsraelMaya, Idit论文数: 0 引用数: 0 h-index: 0机构: Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel Tel Aviv Univ, Sch Med, POB 39040, Tel Aviv, Israel Rabin Med Ctr, Raphael Recanati Genet Inst, IL-49100 Petah Tiqwa, Israel
- [23] Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuriaKIDNEY INTERNATIONAL, 2007, 71 (12) : 1287 - 1295Slajpah, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaGorinsek, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaBerginc, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaVizjak, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaFerluga, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaHvala, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaMeglic, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaJaksa, I.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaFurlan, P.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaGregoric, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaKaplan-Pavlovcic, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaRavnik-Glavac, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, SloveniaGlavac, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Ljubljana, Fac Med, Inst Pathol, Dept Mol Genet, Ljubljana 1000, Slovenia
- [24] Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence techniqueMOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (06):Zhao, Xuechao论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R ChinaChen, Chen论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R ChinaWei, Yanfu论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Nephrol, Affiliated Hosp 1, Res Inst Nephrol, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R ChinaZhao, Ganye论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R ChinaLiu, Lina论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R ChinaWang, Conghui论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R ChinaZhang, Junjun论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Dept Nephrol, Affiliated Hosp 1, Res Inst Nephrol, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R ChinaKong, Xiangdong论文数: 0 引用数: 0 h-index: 0机构: Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China Zhengzhou Univ, Genet & Prenatal Diag Ctr, Henan Engn Res Ctr Gene Editing Human Genet Dis, Affiliated Hosp 1, Zhengzhou, Henan, Peoples R China
- [25] Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcomeNEPHROLOGY DIALYSIS TRANSPLANTATION, 2009, 24 (05) : 1464 - 1471Marcocci, Elena论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyUliana, Vera论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyBruttini, Mirella论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:Zerial, Marlenka论文数: 0 引用数: 0 h-index: 0机构: Osped Gen Provinciale M Bufalini, Dept Pediat, Cesena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyBergesio, Franco论文数: 0 引用数: 0 h-index: 0机构: Azienda Osped Careggi, Nephrol Unit, Florence, Italy Azienda Osped Careggi, Dialysis Unit, Florence, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyAmoroso, Antonio论文数: 0 引用数: 0 h-index: 0机构: San Giovanni Battista Hosp, Turin, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalySavoldi, Silvana论文数: 0 引用数: 0 h-index: 0机构: Osped Cirie, Nephrol Unit, Cirie, Italy Osped Cirie, Dialysis Unit, Cirie, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyPennesi, Marco论文数: 0 引用数: 0 h-index: 0机构: IRCCS Buro Garofolo Trieste, Dept Pediat, Trieste, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyGiachino, Daniela论文数: 0 引用数: 0 h-index: 0机构: Univ Turin, Div Med Genet, Dept Clin & Biol Sci, Orbassano, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyRombola, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: S Andrea Hosp, Nephrol Unit, La Spezia, Italy S Andrea Hosp, Dialysis Unit, La Spezia, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyFogazzi, Giovanni Battista论文数: 0 引用数: 0 h-index: 0机构: Osped Maggiore Policlin, Fdn IRCCS, Nephrol Unit, Milan, Italy Osped Maggiore Policlin, Fdn IRCCS, Dialysis Unit, Milan, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyRosatelli, Cristina论文数: 0 引用数: 0 h-index: 0机构: Univ Cagliari, Dept Biomed Sci & Biotechnol, I-09124 Cagliari, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyMartinhago, Ciro Dresch论文数: 0 引用数: 0 h-index: 0机构: RDO Med Diag, Dept Med Genet, Sao Paulo, Brazil Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyCarmellini, Mario论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyMancini, Roberta论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyDi Costanzo, Giuseppina论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy论文数: 引用数: h-index:机构:Renieri, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, ItalyMari, Francesca论文数: 0 引用数: 0 h-index: 0机构: Univ Siena, Dept Mol Biol, I-53100 Siena, Italy Univ Siena, Dept Mol Biol, I-53100 Siena, Italy
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- [30] A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport SyndromeMOLECULAR SYNDROMOLOGY, 2023, 15 (01) : 1 - 13Yavas, Cueneyd论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, TurkiyeOzgenturk, Nehir Ozdemir论文数: 0 引用数: 0 h-index: 0机构: Yildiz Tech Univ, Fac Arts & Sci, Dept Mol Biol & Genet, Istanbul, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, TurkiyeDogan, Mustafa论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, TurkiyeGezdirici, Alper论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, TurkiyeKeskin, Ece论文数: 0 引用数: 0 h-index: 0机构: Haseki Training & Res Hosp, Clin Med Genet, Istanbul, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, TurkiyeIli, Ezgi Gokpinar论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, TurkiyeDogan, Tunay论文数: 0 引用数: 0 h-index: 0机构: Istinye Univ, Fac Med, Dept Pathol, Istanbul, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, TurkiyeCelebi, Evrim论文数: 0 引用数: 0 h-index: 0机构: Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, Turkiye论文数: 引用数: h-index:机构:Un, Cemal论文数: 0 引用数: 0 h-index: 0机构: Ege Univ, Dept Biol, Mol Biol Sect, Fac Sci, Izmir, Turkiye Basaksehir Cam & Sakura City Hosp, Dept Med Genet, Istanbul, Turkiye