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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
Eur J Hum Genet. 2022 Feb;30(2):219-228. doi: 10.1038/s41431-021-00977-9. Epub 2021 Oct 28.
Eur J Hum Genet. 2022.
PMID: 34707299
Free PMC article.
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia.
Jaillard S, McElreavy K, Robevska G, Akloul L, Ghieh F, Sreenivasan R, Beaumont M, Bashamboo A, Bignon-Topalovic J, Neyroud AS, Bell K, Veron-Gastard E, Launay E, van den Bergen J, Nouyou B, Vialard F, Belaud-Rotureau MA, Ayers KL, Odent S, Ravel C, Tucker EJ, Sinclair AH.
Jaillard S, et al. Among authors: nouyou b.
Mol Hum Reprod. 2020 Sep 1;26(9):665-677. doi: 10.1093/molehr/gaaa050.
Mol Hum Reprod. 2020.
PMID: 32634216
Free article.
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Role of chromosomal imbalances in the pathogenesis of DSD: A retrospective analysis of 115 prenatal samples.
Mary L, Fradin M, Pasquier L, Quelin C, Loget P, Le Lous M, Le Bouar G, Nivot-Adamiak S, Lokchine A, Dubourg C, Jauffret V, Nouyou B, Henry C, Launay E, Odent S, Jaillard S, Belaud-Rotureau MA.
Mary L, et al. Among authors: nouyou b.
Eur J Med Genet. 2023 Jun;66(6):104748. doi: 10.1016/j.ejmg.2023.104748. Epub 2023 Mar 21.
Eur J Med Genet. 2023.
PMID: 36948288
Free article.
Review.
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Gene Editing Corrects In Vitro a G > A GLB1 Transition from a GM1 Gangliosidosis Patient.
Leclerc D, Goujon L, Jaillard S, Nouyou B, Cluzeau L, Damaj L, Dubourg C, Etcheverry A, Levade T, Froissart R, Dréano S, Guillory X, Eriksson LA, Launay E, Mouriaux F, Belaud-Rotureau MA, Odent S, Gilot D.
Leclerc D, et al. Among authors: nouyou b.
CRISPR J. 2023 Feb;6(1):17-31. doi: 10.1089/crispr.2022.0045. Epub 2023 Jan 11.
CRISPR J. 2023.
PMID: 36629845
Free PMC article.
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