| Ataxia rating scales are age‐dependent in healthy children R Brandsma, AH Spits, MJ Kuiper, RJ Lunsing, H Burger, HP Kremer, ... Developmental Medicine & Child Neurology 56 (6), 556-563, 2014 | 95 | 2014 |
| Screening of MECP2 coding sequence in patients with phenotypes of decreasing likelihood for Rett syndrome: a cohort of 171 cases F Kammoun, N De Roux, O Boespflug-Tanguy, L Vallee, R Seng, ... Journal of Medical Genetics 41 (6), e85-e85, 2004 | 56 | 2004 |
| Psycho-emotional impact of a child's disability on parents B Thabet, R Sallemi, I Hasïri, L Zouari, F Kamoun, N Zouari, C Triki, ... Archives de pediatrie: organe officiel De la Societe francaise de pediatrie …, 2012 | 41 | 2012 |
| New mutation c.374C>T and a putative disease‐associated haplotype within SCN1B gene in Tunisian families with febrile seizures N Fendri‐Kriaa, F Kammoun, IH Salem, C Kifagi, E Mkaouar‐Rebai, ... European journal of neurology 18 (5), 695-702, 2011 | 40 | 2011 |
| MRI features in 17 patients with l2 hydroxyglutaric aciduria H Fourati, E Ellouze, M Ahmadi, D Chaari, F Kamoun, I Hsairi, C Triki, ... European journal of radiology open 3, 245-250, 2016 | 29 | 2016 |
| Genetic screening of two Tunisian families with generalized epilepsy with febrile seizures plus N Fendri‐Kriaa, F Kammoun, A Rebai, D Kolsi, I Hadj Salem, F Fakhfakh, ... European journal of neurology 16 (6), 697-704, 2009 | 28 | 2009 |
| Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene E Mkaouar-Rebai, E Ellouze, I Chamkha, F Kammoun, C Triki, F Fakhfakh Journal of Child Neurology 26 (1), 12-20, 2011 | 27 | 2011 |
| Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNATrp in patients with Leigh syndrome E Mkaouar-Rebai, I Chamkha, F Kammoun, T Kammoun, H Aloulou, ... Molecular Genetics and Metabolism 97 (3), 179-184, 2009 | 26 | 2009 |
| Founder effect confirmation of c. 241A> G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria NK Jellouli, I Hadj Salem, E Ellouz, Z Kamoun, N Kaabachi, C Triki, ... Journal of human genetics 59 (4), 216-222, 2014 | 25 | 2014 |
| A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder E Mkaouar-Rebai, F Kammoun, I Chamkha, N Kammoun, I Hsairi, C Triki, ... Journal of child neurology 25 (6), 770-775, 2010 | 25 | 2010 |
| A Novel Mutation in FGD4/FRABIN Causes Charcot Marie Tooth Disease Type 4H in Patients from a Consanguineous Tunisian Family C Boubaker, I Hsairi‐Guidara, C Castro, I Ayadi, A Boyer, E Kerkeni, ... Annals of Human Genetics 77 (4), 336-343, 2013 | 24 | 2013 |
| Répercussions psycho-affectives du handicap de l’enfant sur les parents JB Thabet, R Sallemi, I Hasïri, L Zouari, F Kamoun, N Zouari, C Triki, ... Archives de pédiatrie 20 (1), 9-16, 2013 | 22 | 2013 |
| Club feet with congenital perisylvian polymicrogyria possibly due to bifocal ischemic damage of the neuraxis in utero F Kammoun, A Tanguy, O Boesplug‐Tanguy, H Bensahel, N Khouri, ... American journal of medical genetics Part A 126 (2), 191-196, 2004 | 17 | 2004 |
| Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C … I Hadj Salem, F Kamoun, N Louhichi, M Trigui, C Triki, F Fakhfakh Molecular biology reports 39, 7479-7486, 2012 | 16 | 2012 |
| SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition I Ben Ayed, W Ouarda, F Frikha, F Kammoun, A Souissi, M Ben Said, ... American Journal of Medical Genetics Part A 185 (4), 1081-1090, 2021 | 15 | 2021 |
| A Novel MECP2 Gene Mutation in a Tunisian Patient with Rett Syndrome N Fendri-Kriaa, Z Abdelkafi, IB Rebeh, F Kamoun, C Triki, F Fakhfakh Genetic testing and molecular biomarkers 13 (1), 109-113, 2009 | 14 | 2009 |
| A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: comparison with previous truncated mutations and genotype/phenotype correlation MB Jdila, C Triki, BB Rhouma, RB Jomaa, AB Issa, L Ammar-Keskes, ... International Journal of Developmental Neuroscience 72, 22-30, 2019 | 12 | 2019 |
| Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state MB Jdila, AB Issa, B Khabou, BB Rhouma, F Kamoun, L Ammar-Keskes, ... Clinica Chimica Acta 473, 51-59, 2017 | 11 | 2017 |
| Molecular confirmation of founder mutation c.-167A> G in Tunisian patients with PMLD disease NK Jellouli, IH Salem, E Ellouz, N Louhichi, F Kammoun, C Triki, ... Gene 513 (2), 233-238, 2013 | 11 | 2013 |
| 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 … M Kharrat, Y Kamoun, F Kamoun, E Ellouze, M Maalej, N Fendri-Kriaa, ... Journal of child neurology 32 (8), 694-703, 2017 | 10 | 2017 |
chahnez Charfi TrikiMD, PhDVerified email at fms.usf.tn
