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mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleinerüschkamp F, Oh J, Godefroid N, Eltan M, Güran T, Burtey S, Parotte MC, König J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmüller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. Schlingmann KP, et al. Among authors: kleineruschkamp f. J Am Soc Nephrol. 2021 Nov;32(11):2885-2899. doi: 10.1681/ASN.2021030333. Epub 2021 Oct 4. J Am Soc Nephrol. 2021. PMID: 34607910 Free PMC article.
German Registry for Cardiac Operations and Interventions in Patients with Congenital Heart Disease: Report 2020-Comprehensive Data from 6 Years of Experience.
Beckmann A, Dittrich S, Arenz C, Krogmann ON, Horke A, Tengler A, Meyer R, Bauer UMM, Hofbeck M; German Quality Assurance / Competence Network for Congenital Heart Defects Investigators. Beckmann A, et al. Thorac Cardiovasc Surg. 2021 Dec;69(S 03):e21-e31. doi: 10.1055/s-0041-1722978. Epub 2021 Feb 26. Thorac Cardiovasc Surg. 2021. PMID: 33638137 Free PMC article.