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Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D, Sabir A, Fulton P, Zatyka M, Williams D, Hardy C, Milan G, Favaretto F, Yu-Wai-Man P, Rohayem J, López de Heredia M, Hershey T, Tranebjaerg L, Chen JH, Chaussenot A, Nunes V, Marshall B, McAfferty S, Tillmann V, Maffei P, Paquis-Flucklinger V, Geberhiwot T, Mlynarski W, Parkinson K, Picard V, Bueno GE, Dias R, Arnold A, Richens C, Paisey R, Urano F, Semple R, Sinnott R, Barrett TG. Astuti D, et al. Among authors: chen jh. Hum Mutat. 2017 Jul;38(7):764-777. doi: 10.1002/humu.23233. Epub 2017 Jun 1. Hum Mutat. 2017. PMID: 28432734 Free PMC article.
Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.
Wade KH, Lam BYH, Melvin A, Pan W, Corbin LJ, Hughes DA, Rainbow K, Chen JH, Duckett K, Liu X, Mokrosiński J, Mörseburg A, Neaves S, Williamson A, Zhang C, Farooqi IS, Yeo GSH, Timpson NJ, O'Rahilly S. Wade KH, et al. Among authors: chen jh. Nat Med. 2021 Jun;27(6):1088-1096. doi: 10.1038/s41591-021-01349-y. Epub 2021 May 27. Nat Med. 2021. PMID: 34045736 Free PMC article.
4,493 results