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Page 1
Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.
Mallawaarachchi A, McCarthy H, Forbes TA, Jayasinghe K, Patel C, Alexander SI, Boughtwood T, Braithwaite J, Chakera A, Crafter S, Deveson IW, Faull R, Harris T, Johnstone L, Jose M, Leaver A, Little MH, MacArthur D, Mattiske T, Mincham C, Nicholls K, Quinlan C, Quinn MCJ, Rangan G, Ryan J, Simons C, Smyth I, Sundaram M, Trnka P, Wedd L, Biros E, Stark Z, Mallett A. Mallawaarachchi A, et al. Among authors: mincham c. BMC Nephrol. 2025 Feb 3;26(1):51. doi: 10.1186/s12882-024-03926-y. BMC Nephrol. 2025. PMID: 39901087 Free PMC article.
Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.
Jayasinghe K, Biros E, Harris T, Wood A, O'Shea R, Hill L, Fowles L, Wardrop L, Shalhoub C, Hahn D, Rangan G, Kevin L, Tchan M, Snelling P, Sandow R, Sundaram M, Chaturvedi S, Trnka P, Faull R, Poplawski NK, Huntley V, Garza D, Wallis M, Jose M, Leaver A, Trainer AH, Wilkins EJ, White S, Elbaum Y, Prawer Y, Krzesinski E, Valente G, Winship I, Ryan J, Whitlam J, Nicholls K, West K, Donaldson L, Johnstone L, Lewit-Mendes M, Kerr PG, Bodek S, Chakera A, MacShane M, Mincham C, Stackpoole E, Willis F, Soraru J, Pachter N, Bennetts B, Forbes TA, Mallawaarachchi A, Quinlan C, Patel C, McCarthy H, Goranitis I, Best S, Alexander S, Stark Z, Mallett AJ. Jayasinghe K, et al. Among authors: mincham c. Kidney Int Rep. 2024 May 9;9(8):2372-2385. doi: 10.1016/j.ekir.2024.04.068. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156154 Free PMC article.
Diagnostic and therapeutic management of vesico-ureteral reflux in pediatric kidney transplantation-Results of an online survey on behalf of the European Society for Paediatric Nephrology.
Zirngibl M, Buder K, Luithle T, Tönshoff B, Weitz M; Members of the “Transplantation Working Group” of the European Society for Paediatric Nephrology (ESPN). Zirngibl M, et al. Pediatr Transplant. 2023 Mar;27(2):e14449. doi: 10.1111/petr.14449. Epub 2022 Dec 7. Pediatr Transplant. 2023. PMID: 36478499 Free article.
Factors influencing survival in sphingosine phosphate lyase insufficiency syndrome: a retrospective cross-sectional natural history study of 76 patients.
Keller N, Midgley J, Khalid E, Lesmana H, Mathew G, Mincham C, Teig N, Khan Z, Khosla I, Mehr S, Guran T, Buder K, Xu H, Alhasan K, Buyukyilmaz G, Weaver N, Saba JD. Keller N, et al. Among authors: mincham c. Orphanet J Rare Dis. 2024 Sep 27;19(1):355. doi: 10.1186/s13023-024-03311-w. Orphanet J Rare Dis. 2024. PMID: 39334450 Free PMC article.
16 results