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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
Tommiska J, Känsäkoski J, Skibsbye L, Vaaralahti K, Liu X, Lodge EJ, Tang C, Yuan L, Fagerholm R, Kanters JK, Lahermo P, Kaunisto M, Keski-Filppula R, Vuoristo S, Pulli K, Ebeling T, Valanne L, Sankila EM, Kivirikko S, Lääperi M, Casoni F, Giacobini P, Phan-Hug F, Buki T, Tena-Sempere M, Pitteloud N, Veijola R, Lipsanen-Nyman M, Kaunisto K, Mollard P, Andoniadou CL, Hirsch JA, Varjosalo M, Jespersen T, Raivio T. Tommiska J, et al. Among authors: laaperi m. Nat Commun. 2017 Nov 3;8(1):1289. doi: 10.1038/s41467-017-01429-z. Nat Commun. 2017. PMID: 29097701 Free PMC article.
Letrozole versus testosterone for promotion of endogenous puberty in boys with constitutional delay of growth and puberty: a randomised controlled phase 3 trial.
Varimo T, Huopio H, Kariola L, Tenhola S, Voutilainen R, Toppari J, Toiviainen-Salo S, Hämäläinen E, Pulkkinen MA, Lääperi M, Tarkkanen A, Vaaralahti K, Miettinen PJ, Hero M, Raivio T. Varimo T, et al. Among authors: laaperi m. Lancet Child Adolesc Health. 2019 Feb;3(2):109-120. doi: 10.1016/S2352-4642(18)30377-8. Epub 2019 Jan 4. Lancet Child Adolesc Health. 2019. PMID: 30612946 Clinical Trial.
New-onset type 1 diabetes in Finnish children during the COVID-19 pandemic.
Salmi H, Heinonen S, Hästbacka J, Lääperi M, Rautiainen P, Miettinen PJ, Vapalahti O, Hepojoki J, Knip M. Salmi H, et al. Among authors: laaperi m. Arch Dis Child. 2022 Feb;107(2):180-185. doi: 10.1136/archdischild-2020-321220. Epub 2021 May 27. Arch Dis Child. 2022. PMID: 34045208
Out-of-Hospital Seizures in Children: A Population-Based Study.
Salmi H, Oulasvirta J, Rahiala E, Kuisma M, Lääperi M, Harve H. Salmi H, et al. Among authors: laaperi m. Pediatr Emerg Care. 2021 Dec 1;37(12):e1274-e1277. doi: 10.1097/PEC.0000000000002001. Pediatr Emerg Care. 2021. PMID: 31977765
44 results