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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
2024 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.
[The prenatal diagnosis is not the eugenics].
Simon-Bouy B, Serre JL. Simon-Bouy B, et al. Gynecol Obstet Fertil. 2015 Apr;43(4):263-5. doi: 10.1016/j.gyobfe.2015.02.013. Epub 2015 Mar 26. Gynecol Obstet Fertil. 2015. PMID: 25819389 French. No abstract available.
[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.
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
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
FRAXAC2 instability.
Mornet E, Chateau C, Taillandier A, Montagnon M, Simon-Bouy B, Serre JL, Boué A. Mornet E, et al. Among authors: simon bouy b. Nat Genet. 1994 Jun;7(2):122-3. doi: 10.1038/ng0694-122b. Nat Genet. 1994. PMID: 7920626 No abstract available.
80 results