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Page 1
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Jordan P, Verebi C, Perol S, Grotto S, Fouveaut C, Christin-Maitre S, de la Perrière AB, Grouthier V, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, El Khattabi L, Bienvenu T. Jordan P, et al. Among authors: de la perriere ab. J Assist Reprod Genet. 2024 Jan;41(1):135-146. doi: 10.1007/s10815-023-02981-y. Epub 2023 Nov 3. J Assist Reprod Genet. 2024. PMID: 37921973
Shifting the landscape: Dominant C-terminal rare missense FOXL2 variants in non-syndromic primary ovarian failure etiology.
Jordan P, Verebi C, Hervé B, Perol S, Chakhtoura Z, Courtillot C, Bachelot A, Karila D, Renard C, Grouthier V, de la Croix SM, Bernard V, Fouveaut C, de la Perrière AB, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, Christin-Maitre S, Bienvenu T. Jordan P, et al. Among authors: de la perriere ab. Clin Genet. 2024 Apr 1. doi: 10.1111/cge.14526. Online ahead of print. Clin Genet. 2024. PMID: 38558253
Quality of Life in Men With Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Verhees MJM, Engels M, Span PN, Sweep FCGJ, van Herwaarden AE, Falhammar H, Nordenström A, Webb EA, Richter-Unruh A, Bouvattier C, de la Perrière AB, Arlt W, Reisch N, Köhler B, Rapp M, Stikkelbroeck NMML, Roeleveld N, Claahsen-van der Grinten HL. Verhees MJM, et al. Among authors: de la perriere ab. Front Endocrinol (Lausanne). 2021 Mar 19;12:626646. doi: 10.3389/fendo.2021.626646. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33815285 Free PMC article.
Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE).
Thyen U, Ittermann T, Flessa S, Muehlan H, Birnbaum W, Rapp M, Marshall L, Szarras-Capnik M, Bouvattier C, Kreukels BPC, Nordenstroem A, Roehle R, Koehler B; dsd-LIFE group. Thyen U, et al. BMC Health Serv Res. 2018 Jul 5;18(1):527. doi: 10.1186/s12913-018-3342-0. BMC Health Serv Res. 2018. PMID: 29976186 Free PMC article.
Multicentre cross-sectional clinical evaluation study about quality of life in adults with disorders/differences of sex development (DSD) compared to country specific reference populations (dsd-LIFE).
Rapp M, Mueller-Godeffroy E, Lee P, Roehle R, Kreukels BPC, Köhler B, Nordenström A, Bouvattier C, Thyen U; dsd-LIFE group. Rapp M, et al. Health Qual Life Outcomes. 2018 Apr 3;16(1):54. doi: 10.1186/s12955-018-0881-3. Health Qual Life Outcomes. 2018. PMID: 29615040 Free PMC article.
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