Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

122 results

Results by year

Filters applied: . Clear all
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.
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.
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: miny p. Hum Mutat. 2016 Jul;37(7):711. doi: 10.1002/humu.22997. Epub 2016 Apr 15. Hum Mutat. 2016. PMID: 27300082 No abstract available.
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Suter AA, Itin P, Heinimann K, Ahmed M, Ashraf T, Fryssira H, Kini U, Lapunzina P, Miny P, Sommerlund M, Suri M, Vaeth S, Vasudevan P, Gallati S. Suter AA, et al. Among authors: miny p. Mol Genet Genomic Med. 2016 Feb 24;4(3):359-66. doi: 10.1002/mgg3.209. eCollection 2016 May. Mol Genet Genomic Med. 2016. PMID: 27247962 Free PMC article.
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Røsby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Strømme P. Filges I, et al. Among authors: miny p. Hum Mutat. 2016 Apr;37(4):359-63. doi: 10.1002/humu.22960. Epub 2016 Feb 9. Hum Mutat. 2016. PMID: 26820108
122 results