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

Year Number of Results
2002 2
2003 1
2006 1
2007 1
2008 2
2009 3
2010 4
2011 5
2012 4
2013 4
2014 3
2015 2
2016 3
2019 1
2020 1
2021 1
2022 1
2023 1
2024 0

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38 results

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Page 1
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, Collins S, Ziegler A, Pao E, Oyama N, Brischoux-Boucher E, Piard J, Monaghan K, Sacoto MG, Dobyns W, Park K, Fernández-Mayoralas D, Fernández-Jaén A, Jayakar P, Brusco A, Antona V, Giorgio E, Kvarnung M, Isidor B, Conrad S, Cogné B, Deb W, Stuurman KE, Sterbova K, Smal N, Weckhuysen S, Oegema R, Innes M, Latsko M, Ben-Omran T, Yeh R, Kruer M, Bakhtiari S, Papavasiliou A, Moutton S, Nambot S, Chanprasert S, Paolucci S, Miller K, Burton B, Kim K, O'Heir E, Bruwer Z, Donald K, Kleefstra T, Goldstein A, Angle B, Bontempo K, Miny P, Joset P, Demurger F, Hobson E, Pang L, Carpenter L, Li D, Bonneau D, Sadikovic B. Picketts D, et al. Among authors: miny p. Res Sq [Preprint]. 2023 Sep 29:rs.3.rs-3317938. doi: 10.21203/rs.3.rs-3317938/v1. Res Sq. 2023. PMID: 37841849 Free PMC article. Preprint.
[Genetic testing in the fetus and child].
Bartholdi D, Miny P. Bartholdi D, et al. Among authors: miny p. Ther Umsch. 2013 Nov;70(11):621-31. doi: 10.1024/0040-5930/a000457. Ther Umsch. 2013. PMID: 24168795 Review. German.
How genomics is changing the practice of prenatal testing.
Filges I, Miny P, Holzgreve W, Tercanli S. Filges I, et al. Among authors: miny p. J Perinat Med. 2021 Jul 1;49(8):1003-1010. doi: 10.1515/jpm-2021-0220. Print 2021 Oct 26. J Perinat Med. 2021. PMID: 34214293 Free article.
Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries.
Meier N, Bruder E, Lapaire O, Hoesli I, Kang A, Hench J, Hoeller S, De Geyter J, Miny P, Heinimann K, Chaoui R, Tercanli S, Filges I. Meier N, et al. Among authors: miny p. Eur J Hum Genet. 2019 May;27(5):730-737. doi: 10.1038/s41431-018-0324-y. Epub 2019 Jan 24. Eur J Hum Genet. 2019. PMID: 30679815 Free PMC article.
The mutation spectrum in RECQL4 diseases.
Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. Siitonen HA, et al. Among authors: miny p. Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716613 Free PMC article.
38 results