Publications by authors named "Yassamine Doubaj"

10Publications

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

J Med Case Rep 2017 Jun 15;11(1):158. Epub 2017 Jun 15.

Centre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed V, Rabat, Morocco.

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http://dx.doi.org/10.1186/s13256-017-1311-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471900PMC
June 2017

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.

Eur J Med Genet 2017 May 27;60(5):239-244. Epub 2017 Feb 27.

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

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http://dx.doi.org/10.1016/j.ejmg.2017.02.004DOI Listing
May 2017

A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.

Mol Syndromol 2015 Feb 28;6(1):44-9. Epub 2015 Jan 28.

Département de Génétique Médicale, Institut National d'Hygiène, France ; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Université Mohammed V Souissi, France.

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http://dx.doi.org/10.1159/000371590DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4369116PMC
February 2015

An inherited LMNA gene mutation in atypical Progeria syndrome.

Am J Med Genet A 2012 Nov 18;158A(11):2881-7. Epub 2012 Sep 18.

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

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http://dx.doi.org/10.1002/ajmg.a.35557DOI Listing
November 2012

Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.

J Dermatol 2012 Apr 29;39(4):382-4. Epub 2011 Dec 29.

Center of Human Genomics, University Mohammed V Souissi Department of Medical Genetics, Morocco.

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http://dx.doi.org/10.1111/j.1346-8138.2011.01453.xDOI Listing
April 2012