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High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Makretskaya N, Kalinchenko N, Tebieva I, Ionova S, Zinchenko R, Marakhonov A, Tiulpakov A. Makretskaya N, et al. Among authors: tiulpakov a. Front Endocrinol (Lausanne). 2023 May 16;14:1146768. doi: 10.3389/fendo.2023.1146768. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37274334 Free PMC article.
[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].
Makretskaya NA, Gerasimova MV, Vasilyev EV, Zubkova NA, Kalinchenko NY, Kolodkina AA, Petrov VM, Pogoda TV, Panova AV, Frolova EB, Poliakov AV, Tiulpakov AN. Makretskaya NA, et al. Among authors: tiulpakov an. Probl Endokrinol (Mosk). 2021 May 1;67(3):62-67. doi: 10.14341/probl12746. Probl Endokrinol (Mosk). 2021. PMID: 34297503 Free PMC article. Russian.
80 results