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 NCBI Filters

Results by year

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

Year Number of Results
1960 1
1962 1
1965 1
1966 2
1967 5
1968 2
1970 10
1971 3
1972 3
1973 3
1974 9
1975 7
1976 1
1977 4
1978 3
1979 4
1980 2
1981 4
1982 14
1983 8
1984 5
1985 2
1986 4
1987 6
1988 7
1989 3
1990 4
1991 10
1992 10
1993 13
1994 8
1995 10
1996 11
1997 9
1998 9
1999 4
2000 9
2001 6
2002 10
2003 8
2004 12
2005 11
2006 12
2007 15
2008 10
2009 13
2010 9
2011 16
2012 19
2013 28
2014 23
2015 21
2016 28
2017 17
2018 17
2019 14
2020 27
2021 26
2022 23
2023 14
2024 10

Text availability

Article attribute

Article type

Publication date

Search Results

550 results

Results by year

Filters applied: . Clear all
Page 1
Spliceosomopathies: Diseases and mechanisms.
Griffin C, Saint-Jeannet JP. Griffin C, et al. Dev Dyn. 2020 Sep;249(9):1038-1046. doi: 10.1002/dvdy.214. Epub 2020 Jun 29. Dev Dyn. 2020. PMID: 32506634 Free PMC article. Review.
Nager syndrome.
Lansinger Y, Rayan G. Lansinger Y, et al. J Hand Surg Am. 2015 Apr;40(4):851-4. doi: 10.1016/j.jhsa.2014.10.064. Epub 2014 Dec 24. J Hand Surg Am. 2015. PMID: 25543163 Review. No abstract available.
Branchial arch syndromes.
Alfi D, Lam D, Gateno J. Alfi D, et al. Atlas Oral Maxillofac Surg Clin North Am. 2014 Sep;22(2):167-73. doi: 10.1016/j.cxom.2014.04.003. Epub 2014 Jul 15. Atlas Oral Maxillofac Surg Clin North Am. 2014. PMID: 25171997 Review. No abstract available.
Human facial dysostoses.
Wieczorek D. Wieczorek D. Clin Genet. 2013 Jun;83(6):499-510. doi: 10.1111/cge.12123. Epub 2013 Apr 8. Clin Genet. 2013. PMID: 23565775 Review.
Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics; Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Timberlake AT, et al. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
Genomic imbalances in craniofacial microsomia.
Spineli-Silva S, Sgardioli IC, Dos Santos AP, Bergamini LL, Monlleó IL, Fontes MIB, Félix TM, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Gil-da-Silva-Lopes VL, Vieira TP. Spineli-Silva S, et al. Am J Med Genet C Semin Med Genet. 2020 Dec;184(4):970-985. doi: 10.1002/ajmg.c.31857. Epub 2020 Nov 20. Am J Med Genet C Semin Med Genet. 2020. PMID: 33215817 Review.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. Smallwood K, et al. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. Am J Hum Genet. 2023. PMID: 37075751 Free PMC article.
550 results