N. Fendri-Kriaa

发表

Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.

N. Louhichi, F. Fakhfakh, I. Hadj Salem, 2011, Bioscience reports.

Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome

A. Gargouri, F. Fakhfakh, E. Ellouze, 2017, Journal of child neurology.

Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect

N. Louhichi, F. Fakhfakh, M. Medhaffar, 2010, Annals of Hematology.

An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population

F. Fakhfakh, H. Ayadi, Ghada Ben Salah, 2012, Molecular Biology Reports.

First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.

F. Fakhfakh, N. Gouider-Khouja, Ghada Ben Salah, 2018, Biochemical and biophysical research communications.

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.

F. Fakhfakh, C. Kifagi, M. Hachicha, 2011, Biochemical and biophysical research communications.

DNA repair gene polymorphisms at XRCC1 (Arg194Trp, Arg280His, and Arg399Gln) in a healthy Tunisian population: interethnic variation and functional prediction.

I. Ayadi, F. Fakhfakh, H. Ayadi, 2012, Genetic testing and molecular biomarkers.

New mutation c.374C>T and a putative disease‐associated haplotype within SCN1B gene in Tunisian families with febrile seizures

Ahmed Rebai, I. H. Salem, F. Kammoun, 2011, European journal of neurology.

The First Genome-Wide Scan in a Tunisian Family With Generalized Epilepsy With Febrile Seizure Plus (GEFS+)

Ahmed Rebai, I. H. Salem, N. Louhichi, 2010, Journal of child neurology.

Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus

Ahmed Rebai, F. Kammoun, F. Fakhfakh, 2009, European journal of neurology.

A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.

F. Fakhfakh, Z. Abdelkafi, C. Triki, 2009, Genetic testing and molecular biomarkers.

A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients

F. Fakhfakh, C. Triki, N. Fendri-Kriaa, 2015, Journal of child neurology.

Phenotypic variability in two infants sharing the same MECP2 mutation: evidence of chromosomal rearrangements and high sister-chromatid exchange levels in Rett syndrome

F. Fakhfakh, C. Triki, H. Kammoun, 2017, Acta Neurologica Belgica.

A case of a Tunisian Rett patient with a novel double-mutation of the MECP2 gene.

F. Fakhfakh, C. Kifagi, E. Ellouze, 2011, Biochemical and biophysical research communications.

Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation

N. Louhichi, F. Fakhfakh, R. Zemni, 2010, Journal of child neurology.

Mutation Gene in Tunisian Patients With Rett Syndrome : A Novel Double MECP 2 Mutational Analysis of the

N. Louhichi, F. Fakhfakh, R. Zemni, 2010 .

Novel double deletions in the MECP2 gene in Tunisian Rett patient.

F. Fakhfakh, A. Rouissi, N. Belguith, 2012, Gene.

A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.

Ahmed Rebai, F. Kammoun, F. Fakhfakh, 2011, Biochemical and biophysical research communications.

Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene.

A. Tlili, S. Masmoudi, N. Louhichi, 2010, Bioscience reports.

Novel Mutations in the C-Terminal Region of the MECP2 Gene in Tunisian Rett Syndrome Patients

F. Fakhfakh, A. Rouissi, N. Belguith, 2012, Journal of child neurology.

Evidence of Mutational Heterogeneity of the ALDH7A1 Gene in Tunisian Families: Molecular and Insilico Investigations

A. Tlili, F. Fakhfakh, E. Mkaouar-Rebai, 2016 .