Publications by authors named "Sebastien Boulanger"

6Publications

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

Eur J Med Genet 2016 Oct 25;59(10):522-5. Epub 2016 Jul 25.

Center for Human Genetics, Institut de Pathologie et Génétique (I.P.G.), Gosselies, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.07.003DOI Listing
October 2016

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Am J Med Genet A 2016 11 22;170(11):2927-2933. Epub 2016 Jun 22.

Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi (Gosselies), Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37792DOI Listing
November 2016

Role of CGH array in the diagnosis of autosomal recessive disease: a case of Ellis-van Creveld syndrome.

Prenat Diagn 2015 Jan 2;35(1):97-9. Epub 2014 Oct 2.

Department of Obstetrics and Gynecology, University Hospital Brugmann, Brussels, Belgium; Department of Obstetrics, Gynecology and Urologic Sciences, Sapienza University, Umberto I Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/pd.4490DOI Listing
January 2015

Discordant monozygotic twins for macrocephaly-capillary malformation.

Am J Med Genet A 2012 Jun 14;158A(6):1509-11. Epub 2012 May 14.

Center For Human Genetics, IPG, Charleroi (Gosselies), Belgium.

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http://dx.doi.org/10.1002/ajmg.a.35382DOI Listing
June 2012