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4. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. van der Ven AT; Connaughton DM; Ityel H; Mann N; Nakayama M; Chen J; Vivante A; Hwang DY; Schulz J; Braun DA; Schmidt JM; Schapiro D; Schneider R; Warejko JK; Daga A; Majmundar AJ; Tan W; Jobst-Schwan T; Hermle T; Widmeier E; Ashraf S; Amar A; Hoogstraaten CA; Hugo H; Kitzler TM; Kause F; Kolvenbach CM; Dai R; Spaneas L; Amann K; Stein DR; Baum MA; Somers MJG; Rodig NM; Ferguson MA; Traum AZ; Daouk GH; Bogdanović R; Stajić N; Soliman NA; Kari JA; El Desoky S; Fathy HM; Milosevic D; Al-Saffar M; Awad HS; Eid LA; Selvin A; Senguttuvan P; Sanna-Cherchi S; Rehm HL; MacArthur DG; Lek M; Laricchia KM; Wilson MW; Mane SM; Lifton RP; Lee RS; Bauer SB; Lu W; Reutter HM; Tasic V; Shril S; Hildebrandt F J Am Soc Nephrol; 2018 Sep; 29(9):2348-2361. PubMed ID: 30143558 [TBL] [Abstract][Full Text] [Related]
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7. The genetic basis of congenital anomalies of the kidney and urinary tract. Kagan M; Pleniceanu O; Vivante A Pediatr Nephrol; 2022 Oct; 37(10):2231-2243. PubMed ID: 35122119 [TBL] [Abstract][Full Text] [Related]
8. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Bekheirnia MR; Bekheirnia N; Bainbridge MN; Gu S; Coban Akdemir ZH; Gambin T; Janzen NK; Jhangiani SN; Muzny DM; Michael M; Brewer ED; Elenberg E; Kale AS; Riley AA; Swartz SJ; Scott DA; Yang Y; Srivaths PR; Wenderfer SE; Bodurtha J; Applegate CD; Velinov M; Myers A; Borovik L; Craigen WJ; Hanchard NA; Rosenfeld JA; Lewis RA; Gonzales ET; Gibbs RA; Belmont JW; Roth DR; Eng C; Braun MC; Lupski JR; Lamb DJ Genet Med; 2017 Apr; 19(4):412-420. PubMed ID: 27657687 [TBL] [Abstract][Full Text] [Related]
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20. Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Hwang DY; Dworschak GC; Kohl S; Saisawat P; Vivante A; Hilger AC; Reutter HM; Soliman NA; Bogdanovic R; Kehinde EO; Tasic V; Hildebrandt F Kidney Int; 2014 Jun; 85(6):1429-33. PubMed ID: 24429398 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]