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收藏The impact of diabetes duration and glycemic control on ejection fraction in heart failure patients糖尿病持续时间及血糖控制对心力衰竭患者射血分数的影响
Dogan, O; Barman, HA; Serin, E; Ebeoglu, AO; Atici, A; Turkmen, R; Temel, I; Kok, I; Gok, O; Aydin, I; Ozkan, PE; Nayir, A; Kaya, M; Kurt, C; Altun, A; Oz, K; Uzunhasan, I; Ersanli, MK; Enar, R; Dogan, SM
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收藏PROGRESS STUDY: Progression of chronic kidney disease in children and heat shock proteins
Yuruk Yildirim, Zeynep Nagehan; Usta Akgul, Sebahat; Alpay, Harika; Aksu, Bagdagul; Savran Oguz, Fatma; Kiyak, Aysel; Akinci, Nurver; Yavuz, Sevgi; Ozcelik, Gul; Gedikbasi, Asuman; Gokce, Ibrahim; Ozkayin, Nese; Yildiz, Nurdan; Pehlivanoglu, Cemile; Goknar, Nilufer; Saygili, Seha; Tulpar, Sebahat; Kucuk, Nuran; Bilge, Ilmay; Tasdemir, Mehmet; Agbas, Ayse; Dirican, Ahmet; Emre, Sevinc; Nayir, Ahmet; Yilmaz, Alev
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收藏COVID-19 in pediatric patients undergoing chronic dialysis and kidney transplantation接受慢性透析和肾移植的儿科患者的新型冠状病毒肺炎
Canpolat, Nur; Yildirim, Zeynep Yuruk; Yildiz, Nurdan; Tasdemir, Mehmet; Goknar, Nilufer; Evrengul, Havva; Gulmez, Ruveyda; Aksu, Bagdagul; Dursun, Hasan; Ozcelik, Gul; Yavascan, Onder; Cicek, Rumeysa Yasemin; Tulpar, Sebahat; Hacihamdioglu, Duygu Ovunc; Nayir, Ahmet; Alpay, Harika
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收藏Advillin acts upstream of phospholipase C ∈1 in steroid-resistant nephrotic syndrome
Rao, Jia; Ashraf, Shazia; Tan, Weizhen; van der Ven, Amelie T.; Gee, Heon Yung; Braun, Daniela A.; Feher, Krisztina; George, Sudeep P.; Esmaeilniakooshkghazi, Amin; Choi, Won-Il; Jobst-Schwan, Tilman; Schneider, Ronen; Schmidt, Johanna Magdalena; Widmeier, Eugen; Warejko, Jillian K.; Hermle, Tobias; Schapiro, David; Lovric, Svjetlana; Shril, Shirlee; Daga, Ankana; Nayir, Ahmet; Shenoy, Mohan; Tse, Yincent; Bald, Martin; Helmchen, Udo; Mir, Sevgi; Berdeli, Afig; Kari, Jameela A.; El Desoky, Sherif; Soliman, Neveen A.; Bagga, Arvind; Mane, Shrikant; Jairajpuri, Mohamad A.; Lifton, Richard P.; Khurana, Seema; Martins, Jose C.; Hildebrandt, Friedhelm
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收藏Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies
Gee, Heon Yung; Otto, Edgar A.; Hurd, Toby W.; Ashraf, Shazia; Chaki, Moumita; Cluckey, Andrew; Vega-Warner, Virginia; Saisawat, Pawaree; Diaz, Katrina A.; Fang, Humphrey; Kohl, Stefan; Allen, Susan J.; Airik, Rannar; Zhou, Weibin; Ramaswami, Gokul; Janssen, Sabine; Fu, Clementine; Innis, Jamie L.; Weber, Stefanie; Vester, Udo; Davis, Erica E.; Katsanis, Nicholas; Fathy, Hanan M.; Jeck, Nikola; Klaus, Gunther; Nayir, Ahmet; Rahim, Khawla A.; Al Attrach, Ibrahim; Al Hassoun, Ibrahim; Ozturk, Savas; Drozdz, Dorota; Helmchen, Udo; O'Toole, John F.; Attanasio, Massimo; Lewis, Richard A.; Nuernberg, Gudrun; Nuernberg, Peter; Washburn, Joseph; MacDonald, James; Innis, Jeffrey W.; Levy, Shawn; Hildebrandt, Friedhelm
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收藏Genetic diagnosis by whole exome capture and massively parallel DNA sequencing通过全外显子组捕获和大规模并行DNA测序进行遗传诊断
Choi, Murim; Scholl, Ute I.; Ji, Weizhen; Liu, Tiewen; Tikhonova, Irina R.; Zumbo, Paul; Nayir, Ahmet; Bakkaloglu, Aysin; Ozen, Seza; Sanjad, Sami; Nelson-Williams, Carol; Farhi, Anita; Mane, Shrikant; Lifton, Richard P.
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收藏Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)
Otto, E. A.; Tory, K.; Attanasio, M.; Zhou, W.; Chaki, M.; Paruchuri, Y.; Wise, E. L.; Wolf, M. T. F.; Utsch, B.; Becker, C.; Nuernberg, G.; Nuernberg, P.; Nayir, A.; Saunier, S.; Antignac, C.; Hildebrandt, F.
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收藏The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
Mollet, G; Salomon, R; Gribouval, O; Silbermann, F; Bacq, D; Landthaler, G; Milford, D; Nayir, A; Rizzoni, G; Antignac, C; Saunier, S
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收藏Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Smith, AN; Skaug, J; Choate, KA; Nayir, A; Bakkaloglu, A; Ozen, S; Hulton, SA; Sanjad, SA; Al-Sabban, EA; Lifton, RP; Scherer, SW; Karet, FE
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收藏Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34
Karet, FE; Finberg, KE; Nayir, A; Bakkaloglu, A; Ozen, S; Hulton, SA; Sanjad, SA; Al-Sabban, EA; Medina, JF; Lifton, RP
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收藏Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Karet, FE; Finberg, KE; Nelson, RD; Nayir, A; Mocan, H; Sanjad, SA; Rodriguez-Soriano, J; Santos, F; Cremers, CWRJ; Di Pietro, A; Hoffbrand, BI; Winiarski, J; Bakkaloglu, A; Ozen, S; Dusunsel, R; Goodyer, P; Hulton, SA; Wu, DK; Skvorak, AB; Morton, CC; Cunningham, MJ; Jha, V; Lifton, RP
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收藏Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis
Karet, FE; Gainza, FJ; Györy, AZ; Unwin, RJ; Wrong, O; Tanner, MJA; Nayir, A; Alpay, H; Santos, F; Hulton, SA; Bakkaloglu, A; Ozen, S; Cunningham, MJ; di Pietro, A; Walker, WG; Lifton, RP
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收藏Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
Simon, DB; Bindra, RS; Mansfield, TA; NelsonWilliams, C; Mendonca, E; Stone, R; Schurman, S; Nayir, A; Alpay, H; Bakkaloglu, A; RodriguezSoriano, J; Morales, JM; Sanjad, SA; Taylor, CM; Pilz, D; Brem, A; Trachtman, H; Griswold, W; Richard, GA; John, E; Lifton, RP
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