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Results by year

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

Year Number of Results
1965 5
1966 5
1967 2
1968 2
1969 7
1970 4
1971 4
1972 3
1973 5
1974 2
1975 1
1976 1
1978 3
1980 1
1983 1
1984 1
1985 3
1986 4
1987 2
1988 2
1990 5
1991 3
1992 6
1993 2
1994 2
1995 3
1996 5
1997 5
1998 2
1999 6
2000 4
2001 7
2002 3
2003 6
2004 9
2005 5
2006 3
2007 5
2008 6
2009 5
2010 5
2011 4
2012 12
2013 10
2014 9
2015 7
2016 9
2017 7
2018 9
2019 5
2020 6
2021 11
2022 7
2023 1
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Search Results

234 results
Results by year
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Page 1
RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation.
Revencu N, Boon LM, Mendola A, Cordisco MR, Dubois J, Clapuyt P, Hammer F, Amor DJ, Irvine AD, Baselga E, Dompmartin A, Syed S, Martin-Santiago A, Ades L, Collins F, Smith J, Sandaradura S, Barrio VR, Burrows PE, Blei F, Cozzolino M, Brunetti-Pierri N, Vicente A, Abramowicz M, Désir J, Vilain C, Chung WK, Wilson A, Gardiner CA, Dwight Y, Lord DJ, Fishman L, Cytrynbaum C, Chamlin S, Ghali F, Gilaberte Y, Joss S, Boente Mdel C, Léauté-Labrèze C, Delrue MA, Bayliss S, Martorell L, González-Enseñat MA, Mazereeuw-Hautier J, O'Donnell B, Bessis D, Pyeritz RE, Salhi A, Tan OT, Wargon O, Mulliken JB, Vikkula M. Revencu N, et al. Among authors: abramowicz m. Hum Mutat. 2013 Dec;34(12):1632-41. doi: 10.1002/humu.22431. Epub 2013 Oct 10. Hum Mutat. 2013. PMID: 24038909
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A. Courraud J, et al. Among authors: abramowicz m. Genet Med. 2021 Nov;23(11):2150-2159. doi: 10.1038/s41436-021-01263-1. Epub 2021 Aug 3. Genet Med. 2021. PMID: 34345024 Free article.
The genetics of congenitally small brains.
Duerinckx S, Abramowicz M. Duerinckx S, et al. Among authors: abramowicz m. Semin Cell Dev Biol. 2018 Apr;76:76-85. doi: 10.1016/j.semcdb.2017.09.015. Epub 2017 Sep 12. Semin Cell Dev Biol. 2018. PMID: 28912110 Review.
[Genetics of hearing disorders in children].
Paoloni-Giacobino A, Ranza E, Abramowicz M, Senn P, Cao Van H. Paoloni-Giacobino A, et al. Among authors: abramowicz m. Rev Med Suisse. 2019 Oct 2;15(665):1740-1745. Rev Med Suisse. 2019. PMID: 31580017 Review. French.
Global implementation of genomic medicine: We are not alone.
Manolio TA, Abramowicz M, Al-Mulla F, Anderson W, Balling R, Berger AC, Bleyl S, Chakravarti A, Chantratita W, Chisholm RL, Dissanayake VH, Dunn M, Dzau VJ, Han BG, Hubbard T, Kolbe A, Korf B, Kubo M, Lasko P, Leego E, Mahasirimongkol S, Majumdar PP, Matthijs G, McLeod HL, Metspalu A, Meulien P, Miyano S, Naparstek Y, O'Rourke PP, Patrinos GP, Rehm HL, Relling MV, Rennert G, Rodriguez LL, Roden DM, Shuldiner AR, Sinha S, Tan P, Ulfendahl M, Ward R, Williams MS, Wong JE, Green ED, Ginsburg GS. Manolio TA, et al. Among authors: abramowicz m. Sci Transl Med. 2015 Jun 3;7(290):290ps13. doi: 10.1126/scitranslmed.aab0194. Sci Transl Med. 2015. PMID: 26041702 Free PMC article. Review.
Foundations of Black Hole Accretion Disk Theory.
Abramowicz MA, Fragile PC. Abramowicz MA, et al. Living Rev Relativ. 2013;16(1):1. doi: 10.12942/lrr-2013-1. Epub 2013 Jan 14. Living Rev Relativ. 2013. PMID: 28179840 Free PMC article. Review.
234 results