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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 1
1999 1
2000 3
2001 2
2002 3
2003 6
2004 1
2005 7
2006 4
2007 1
2008 2
2009 8
2010 9
2011 8
2012 5
2013 5
2014 11
2015 9
2016 5
2017 2
2018 3
2019 12
2020 12
2021 9
2022 13
2023 8
2024 3

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126 results

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Page 1
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: jaillard s. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
[Autophagy and spermatozoa].
Buschiazzo A, Yefimova M, Bourmeyster N, Fautrel A, Burel A, Neyroud AS, Pimentel C, Jaillard S, Jégou B, Ravel C. Buschiazzo A, et al. Among authors: jaillard s. Med Sci (Paris). 2019 Nov;35(11):852-858. doi: 10.1051/medsci/2019172. Epub 2019 Dec 17. Med Sci (Paris). 2019. PMID: 31845876 Free article. Review. French.
[The Sertoli cell].
Ravel C, Jaillard S. Ravel C, et al. Among authors: jaillard s. Morphologie. 2011 Dec;95(311):151-8. doi: 10.1016/j.morpho.2011.07.118. Epub 2011 Nov 16. Morphologie. 2011. PMID: 22094070 Review. French.
Prenatal phenotype of 22q11 micro-duplications: A systematic review and report on 12 new cases.
Mary L, Lavillaureix A, Perrot A, Loget P, Launay E, Leborgne AS, Demurger F, Fradin M, Le Bouar G, Quélin C, Dubourg C, Pasquier L, Odent S, Belaud-Rotureau MA, Jaillard S. Mary L, et al. Among authors: jaillard s. Eur J Med Genet. 2022 Feb;65(2):104422. doi: 10.1016/j.ejmg.2022.104422. Epub 2022 Jan 10. Eur J Med Genet. 2022. PMID: 35026468 Free article. Review.
[Cytogenetics profiles of renal carcinoma].
Dugay F, Dagher J, Verhoest G, Henry C, Jaillard S, Arlot-Bonnemains Y, Bensalah K, Vigneau C, Rioux-Leclercq N, Belaud-Rotureau MA. Dugay F, et al. Among authors: jaillard s. Morphologie. 2014 Mar;98(320):1-7. doi: 10.1016/j.morpho.2014.02.006. Epub 2014 Mar 18. Morphologie. 2014. PMID: 24656859 Free article. Review. French.
Hypothermic machine perfusion for uterus transplantation.
Dion L, Sousa C, Boudjema K, Val-Laillet D, Jaillard S, Rioux-Leclercq N, Flecher E, Lavoue V. Dion L, et al. Among authors: jaillard s. Fertil Steril. 2023 Dec;120(6):1259-1261. doi: 10.1016/j.fertnstert.2023.08.020. Epub 2023 Sep 1. Fertil Steril. 2023. PMID: 37660880 Free article.
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: jaillard s. 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.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: jaillard s. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
Extra-cellular vesicles of the male genital tract: new actors in male fertility?
Neyroud AS, Chiechio R, Yefimova M, Lo Faro MJ, Dejucq-Rainsford N, Jaillard S, Even-Hernandez P, Marchi V, Ravel C. Neyroud AS, et al. Among authors: jaillard s. Basic Clin Androl. 2021 Oct 14;31(1):25. doi: 10.1186/s12610-021-00141-9. Basic Clin Androl. 2021. PMID: 34645388 Free PMC article. Review.
126 results