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

Year Number of Results
1984 1
1985 4
1986 7
1987 5
1988 5
1989 8
1990 9
1991 4
1992 4
1993 7
1994 3
1995 4
1997 1
1998 1
1999 2
2000 5
2001 4
2002 3
2003 2
2004 1
2005 1
2006 3
2007 1
2008 2
2009 3
2010 6
2011 6
2012 4
2013 5
2014 4
2015 2
2016 3
2017 1
2019 1
2020 1
2021 1
2022 1
2023 1
2024 0

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122 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.
Trisomy 20 mosaicism.
Miny P, Pawlowitzki IH. Miny P, et al. Prenat Diagn. 1984 Nov-Dec;4(6):411-9. doi: 10.1002/pd.1970040604. Prenat Diagn. 1984. PMID: 6522346
[Recent advances in prenatal diagnostics].
Lapaire O, Holzgreve W, Miny P, Hösli I, Hahn S, Tercanli S. Lapaire O, et al. Among authors: miny p. Ther Umsch. 2006 Nov;63(11):683-91. doi: 10.1024/0040-5930.63.11.683. Ther Umsch. 2006. PMID: 17075782 Review. German.
Genetic counselling in prenatal diagnosis.
Holzgreve W, Miny P. Holzgreve W, et al. Among authors: miny p. Eur J Obstet Gynecol Reprod Biol. 1993 May;49(3):125-9. doi: 10.1016/0028-2243(93)90259-f. Eur J Obstet Gynecol Reprod Biol. 1993. PMID: 8405625 No abstract available.
[Genetic testing in pregnancy].
Miny P, Heinimann K, Tercanli S, Holzgreve W. Miny P, et al. Ther Umsch. 2003 Aug;60(8):455-61. doi: 10.1024/0040-5930.60.8.455. Ther Umsch. 2003. PMID: 14502852 Review. German.
[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.
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.
[Is sterility a genetic burden?].
Miny P, Schloo R. Miny P, et al. Ther Umsch. 1999 May;56(5):265-70. doi: 10.1024/0040-5930.56.5.265. Ther Umsch. 1999. PMID: 10409901 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.
122 results