Olfa Siala

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Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.

M. Hchicha, F. Fakhfakh, I. Chabchoub, 2012, Gene.

Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.

Ahmed Rebai, P. Guicheney, P. Richard, 2007, Genetic testing.

An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

F. Fakhfakh, N. Belguith, Olfa Siala, 2013, Iranian journal of pediatrics.

Evaluation of the effect of c.2946 + 1G > T mutation on splicing in the SCN1A gene

Olfa Siala, Faiza Fakhfakh, Afif Ben Mahmoud, 2015, Comput. Biol. Chem..

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-α2 protein and a severe congenital muscular dystrophy

N. Louhichi, F. Fakhfakh, F. Baklouti, 2008, Neuromuscular Disorders.

Functional Analysis of the C.3705+5G>C Mutation in the SCN1A Gene:Cryptic Splicing Site Activation and Partial Exon Skipping

A. Tlili, F. Fakhfakh, A. Benmahmoud, 2016 .

First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.

F. Fakhfakh, N. Belguith, R. B. Mansour, 2013, Gene.

Subtle discrepancies of SF2/ASF ESE sequence motif among human tissues: A computational approach

Ahmed Rebai, Olfa Siala, Faouzi Baklouti, 2010, Comput. Biol. Chem..

Novel sequence variations in LAMA2 andSGCG genes modulating cis-acting regulatory elements and RNA secondary structure

A. Tlili, I. H. Salem, F. Fakhfakh, 2010, Genetics and molecular biology.

Evaluation of the effect of c.2946 + 1G > T mutation on splicing in the SCN1A gene

F. Fakhfakh, E. Mkaouar-Rebai, Olfa Siala, 2015, Comput. Biol. Chem..

An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

F. Fakhfakh, N. Belguith, Olfa Siala, 2013, Iranian journal of pediatrics.