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Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France.
Bonnet E, Winter M, Mallet D, Plotton I, Bouvattier C, Cartigny M, Martinerie L, Polak M, Bachelot A, Huet F, Baron S, Houang M, Soskin S, Lienhardt A, Bertherat J, Amouroux C, Bouty A, Duranteau L, Besson R, El Ghoneimi A, Samara-Boustani D, Becmeur F, Kalfa N, Paris F, Medjkane F, Brac de la Perrière A, Bretones P, Lejeune H, Nicolino M, Mouriquand P, Gorduza DB, Gay CL. Bonnet E, et al. Among authors: paris f. Endocr Connect. 2023 Feb 14;12(3):e220227. doi: 10.1530/EC-22-0227. Print 2023 Mar 1. Endocr Connect. 2023. PMID: 36606580 Free PMC article.
Identification and Characterization of Novel FSHR Copy Number Variations Causing Premature Ovarian Insufficiency.
Lokchine A, Bergougnoux A, Servant N, Akloul L, Launay E, Mary L, Cluzeau L, Philippe M, Domin-Bernhard M, Duros S, Odent S, Tucker E, Paris F, Belaud-Rotureau MA, Jaillard S. Lokchine A, et al. Among authors: paris f. Am J Med Genet A. 2024 Nov 4:e63924. doi: 10.1002/ajmg.a.63924. Online ahead of print. Am J Med Genet A. 2024. PMID: 39497500 Free article.
Case report: A novel JAK3 homozygous variant in a patient with severe combined immunodeficiency and persistent COVID-19.
Sbruzzi RC, Prado MJ, Fam B, Prolla HA, Hellwig A, Motta Rodrigues G, de-Paris F, Jobim M, Artigalás O, Seeleuthner Y, Casanova JL, Bustamante J, Vianna FSL. Sbruzzi RC, et al. Among authors: de paris f. Front Immunol. 2024 Nov 13;15:1472957. doi: 10.3389/fimmu.2024.1472957. eCollection 2024. Front Immunol. 2024. PMID: 39611146 Free PMC article.
460 results