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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Yap KL, et al. Among authors: thornton p. Genet Med. 2019 Jan;21(1):233-242. doi: 10.1038/s41436-018-0013-9. Epub 2018 Jun 15. Genet Med. 2019. PMID: 29907798 Free PMC article.
A syndrome of congenital hyperinsulinism and hyperammonemia.
Weinzimer SA, Stanley CA, Berry GT, Yudkoff M, Tuchman M, Thornton PS. Weinzimer SA, et al. Among authors: thornton ps. J Pediatr. 1997 Apr;130(4):661-4. doi: 10.1016/s0022-3476(97)70256-7. J Pediatr. 1997. PMID: 9108870
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leon DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Yap KL, et al. Among authors: thornton p. Genet Med. 2019 Jan;21(1):262-265. doi: 10.1038/s41436-018-0126-1. Genet Med. 2019. PMID: 30097611 Free article.
Congenital Hyperinsulinism: An Historical Perspective.
Thornton PS, Stanley CA, De Leon DD. Thornton PS, et al. Horm Res Paediatr. 2022;95(6):631-637. doi: 10.1159/000526442. Epub 2022 Nov 29. Horm Res Paediatr. 2022. PMID: 36446321 Free article. Review.
432 results