Sophie Coutant

Sophie Coutant

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Sophie Coutant

Sophie Coutant

Publications by authors named "Sophie Coutant"

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Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.

Am J Med Genet A 2019 Nov 7;179(11):2257-2262. Epub 2019 Aug 7.

Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.

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http://dx.doi.org/10.1002/ajmg.a.61317DOI Listing
November 2019

[Towards the active participation of users in quality approaches].

Soins 2017 Jan - Feb;62(812):27-31

Hôpital d'instruction des armées Bégin, DCSSA, 69, avenue de Paris, 94160 Saint-Mandé, France.

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http://dx.doi.org/10.1016/j.soin.2016.12.006DOI Listing
July 2017

Familial solitary chondrosarcoma resulting from germline EXT2 mutation.

Genes Chromosomes Cancer 2017 02 25;56(2):128-134. Epub 2016 Oct 25.

Inserm U1079, Faculty of Medicine, UNIROUEN, Normandie Univ and Department of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.

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http://dx.doi.org/10.1002/gcc.22419DOI Listing
February 2017

EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.

BMC Bioinformatics 2012 7;13 Suppl 14:S9. Epub 2012 Sep 7.

University of Rouen, INSERM U1079 Molecular genetics of cancer and neuropsychiatric diseases, 76183 Rouen cedex, France.

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http://dx.doi.org/10.1186/1471-2105-13-S14-S9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3439720PMC
May 2013