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

Year Number of Results
1988 1
1989 2
1990 4
1991 6
1992 2
1993 3
1994 3
1995 2
1996 3
1997 2
1998 3
1999 4
2000 3
2001 2
2002 5
2003 6
2004 5
2005 2
2006 3
2007 1
2008 2
2009 2
2010 1
2011 1
2012 1
2013 2
2014 1
2015 3
2016 2
2017 3
2018 1
2019 1
2020 1
2021 2
2022 0
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80 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: simon bouy b. 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.
[Genetics of hypophosphatasia].
Mornet E, Simon-Bouy B. Mornet E, et al. Among authors: simon bouy b. Arch Pediatr. 2004 May;11(5):444-8. doi: 10.1016/j.arcped.2004.01.025. Arch Pediatr. 2004. PMID: 15135429 Review. French.
Utility of genetic testing for prenatal presentations of hypophosphatasia.
Sperelakis-Beedham B, Taillandier A, Domingues C, Guberto M, Colin E, Porquet-Bordes V, Rothenbuhler A, Salles JP, Wenkert D, Zankl A, Muti C, Bacrot S, Simon-Bouy B, Mornet E. Sperelakis-Beedham B, et al. Among authors: simon bouy b. Mol Genet Metab. 2021 Mar;132(3):198-203. doi: 10.1016/j.ymgme.2021.01.009. Epub 2021 Jan 27. Mol Genet Metab. 2021. PMID: 33549410
[Genomic medicine for every patient: Dream or reality?].
Simon-Bouy B, Caron O. Simon-Bouy B, et al. Gynecol Obstet Fertil Senol. 2017 Apr;45(4):187-189. doi: 10.1016/j.gofs.2017.02.009. Epub 2017 Mar 27. Gynecol Obstet Fertil Senol. 2017. PMID: 28359804 French. No abstract available.
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A, Domingues C, Dufour A, Debiais F, Guggenbuhl P, Roux C, Cormier C, Cortet B, Porquet-Bordes V, Coury F, Geneviève D, Chiesa J, Colin T, Fletcher E, Guichet A, Javier RM, Laroche M, Laurent M, Lausch E, LeHeup B, Lukas C, Schwabe G, van der Burgt I, Muti C, Simon-Bouy B, Mornet E. Taillandier A, et al. Among authors: simon bouy b. J Bone Miner Metab. 2018 Nov;36(6):723-733. doi: 10.1007/s00774-017-0888-6. Epub 2017 Dec 13. J Bone Miner Metab. 2018. PMID: 29236161
[Genetics of Fragile X syndrome and its prevention].
Boué J, Simon-Bouy B. Boué J, et al. Among authors: simon bouy b. J Gynecol Obstet Biol Reprod (Paris). 1997;26(3):273-9. J Gynecol Obstet Biol Reprod (Paris). 1997. PMID: 9265049 Review. French.
How can the genetic risks of embryo donation be minimized? Proposed guidelines of the French Federation of CECOS (Centre d'Etude et de Conservation des Oeufs et du Sperme).
Eydoux P, Thepot F, Fellmann F, Francannet C, Simon-Bouy B, Jouannet P, Bresson JL, Siffroi JP; Commission de Génétique de la Fédération Française des CECOS. Eydoux P, et al. Among authors: simon bouy b. Hum Reprod. 2004 Aug;19(8):1685-8. doi: 10.1093/humrep/deh328. Epub 2004 Jun 10. Hum Reprod. 2004. PMID: 15192062 Review.
80 results