List of works - O Mamaï - Paulina

List of works by O Mamaï

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.

scientific article published on 23 November 2011

Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family

scientific article published on 4 March 2010

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients ⬇️

scientific article published on August 6, 2011

ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis.

scientific article published on 27 September 2017

Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus

scientific article

Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene

scientific article

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

scientific article published in September 2016

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.

scientific article published on 14 October 2012

Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population

scientific article

Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

scientific article published on 17 November 2011

Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.

scientific article published on 22 July 2014

Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family ⬇️

scientific article published on December 22, 2011

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