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Results by year

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

Year Number of Results
1972 2
1973 5
1974 8
1975 1
1976 1
1977 17
1978 15
1979 30
1980 28
1981 20
1982 20
1983 15
1984 24
1985 22
1986 31
1987 32
1988 41
1989 28
1990 53
1991 39
1992 51
1993 54
1994 49
1995 48
1996 67
1997 43
1998 66
1999 48
2000 45
2001 41
2002 57
2003 47
2004 46
2005 50
2006 35
2007 33
2008 26
2009 27
2010 23
2011 22
2012 12
2013 8
2014 4
2015 3
2016 2
2018 2
2019 1
2024 0

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1,311 results

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Page 1
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: fryns jp. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
Pfeiffer syndrome.
Vogels A, Fryns JP. Vogels A, et al. Among authors: fryns jp. Orphanet J Rare Dis. 2006 Jun 1;1:19. doi: 10.1186/1750-1172-1-19. Orphanet J Rare Dis. 2006. PMID: 16740155 Free PMC article. Review.
Preconception care.
Witters I, Bogaerts A, Fryns JP. Witters I, et al. Among authors: fryns jp. Genet Couns. 2010;21(2):169-82. Genet Couns. 2010. PMID: 20681217
Human chromosome fragility.
Lukusa T, Fryns JP. Lukusa T, et al. Among authors: fryns jp. Biochim Biophys Acta. 2008 Jan;1779(1):3-16. doi: 10.1016/j.bbagrm.2007.10.005. Epub 2007 Dec 3. Biochim Biophys Acta. 2008. PMID: 18078840 Review.
Angelman syndrome (AS, MIM 105830).
Van Buggenhout G, Fryns JP. Van Buggenhout G, et al. Among authors: fryns jp. Eur J Hum Genet. 2009 Nov;17(11):1367-73. doi: 10.1038/ejhg.2009.67. Epub 2009 May 20. Eur J Hum Genet. 2009. PMID: 19455185 Free PMC article. Review.
Acrofacial dysostosis type Rodríguez.
Dimitrov B, Balikova I, Jekova N, Vakrilova L, Fryns JP, Simeonov E. Dimitrov B, et al. Among authors: fryns jp. Am J Med Genet A. 2005 May 15;135(1):81-5. doi: 10.1002/ajmg.a.30673. Am J Med Genet A. 2005. PMID: 15793832 Review.
Wolf-Hirschhorn (4P-) syndrome in adults.
Marcelis C, Schrander-Stumpel C, Engelen J, Schoonbrood-Lenssen A, Willemse A, Beemer F, Sigaudy S, Missirian C, Philip N, Fryns JP. Marcelis C, et al. Among authors: fryns jp. Genet Couns. 2001;12(1):35-48. Genet Couns. 2001. PMID: 11332977 Review.
1,311 results