Gregory Egea

Gregory Egea

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Gregory Egea

Gregory Egea

Publications by authors named "Gregory Egea"

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A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

BMC Med Genet 2018 07 18;19(1):118. Epub 2018 Jul 18.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1186/s12881-018-0625-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052603PMC
July 2018

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.

Gene 2017 Sep 8;628:190-193. Epub 2017 Jul 8.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University in Rabat, Morocco; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Morocco.

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http://dx.doi.org/10.1016/j.gene.2017.07.011DOI Listing
September 2017

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Pediatr Rheumatol Online J 2017 Sep 26;15(1):72. Epub 2017 Sep 26.

Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.

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http://dx.doi.org/10.1186/s12969-017-0200-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615433PMC
September 2017

Characterization of a de novo Supernumerary Neocentric Ring Chromosome Derived from Chromosome 7.

Cytogenet Genome Res 2015 16;147(2-3):111-7. Epub 2015 Dec 16.

Laboratoire de Cytogx00E9;nx00E9;tique Constitutionnelle, Service de Gx00E9;nx00E9;tique, Centre de Biologie et de Pathologie Est, Bron, France.

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http://dx.doi.org/10.1159/000442265DOI Listing
August 2016

Germline and somatic mosaicism for a mutation of the ryanodine receptor type 2 gene: implication for genetic counselling and patient caring.

Europace 2011 Jan 17;13(1):130-2. Epub 2010 Sep 17.

Laboratoire de Biochimie et Génétique Moléculaire, Centre Hospitalier Universitaire de Grenoble, Grenoble, France.

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http://dx.doi.org/10.1093/europace/euq331DOI Listing
January 2011