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Page 1
Recommendations for the diagnosis and management of Turner syndrome.
Saenger P, Wikland KA, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R, Silberbach M; Fifth International Symposium on Turner Syndrome. Saenger P, et al. J Clin Endocrinol Metab. 2001 Jul;86(7):3061-9. doi: 10.1210/jcem.86.7.7683. J Clin Endocrinol Metab. 2001. PMID: 11443168 Review.
Hand it to the skin in Costello syndrome.
Lin A, Harding C, Silberbach M. Lin A, et al. J Pediatr. 2004 Jan;144(1):135. doi: 10.1016/S0022-3476(03)00346-9. J Pediatr. 2004. PMID: 14722534 No abstract available.
Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.
Dannheim K, Eilers G, Page NC, Garg S, Anderson K, Colglazier E, Parker C, Teitel DF, Sanchez HC, Sidebottom R, Abbott B, Knoll JL, Brand MR, Mou H, Lindsay ME, Lin AE. Dannheim K, et al. Among authors: lin ae. Am J Med Genet C Semin Med Genet. 2025 Dec 3. doi: 10.1002/ajmg.c.32158. Online ahead of print. Am J Med Genet C Semin Med Genet. 2025. PMID: 41340414
Human plasma proteomic profile of clonal hematopoiesis.
Yu Z, Vromman A, Nguyen NQH, Schuermans A, Li L, Rentz T, Nakao T, Vellarikkal SK, Uddin MM, Niroula A, Griffin G, Honigberg MC, Lin AE, Gibson CJ, Katz DH, Tahir UA, Fang S, Dron JS, Pan M, Haidermota S, Ganesh S, Antoine T, Weinstock J, Austin TR, Vasan RS, Peloso GM, Hornsby W, Ganz P, Manson JE, Haring B, Kooperberg C, Reiner AP, Bis JC, Psaty BM, Min YI, Correa A, Lange LA, Post WS, Rotter JI, Rich SS, Wilson JG, Ebert BL, Yu B, Ballantyne CM, Coresh J, Sankaran VG, Bick AG, Jaiswal S, Gerszten RE; NHLBI Trans-Omics for Precision Medicine; Libby P, Gupta RM, Natarajan P. Yu Z, et al. Among authors: lin ae. Nat Commun. 2025 Nov 27;16(1):11688. doi: 10.1038/s41467-025-66755-z. Nat Commun. 2025. PMID: 41309676 Free PMC article.
326 results