Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

172 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Maalej M, Sfaihi L, Fersi OA, Khabou B, Ammar M, Felhi R, Kharrat M, Chouchen J, Kammoun T, Tlili A, Fakhfakh F. Maalej M, et al. Among authors: fakhfakh f. Metab Brain Dis. 2024 Apr;39(4):611-623. doi: 10.1007/s11011-024-01343-6. Epub 2024 Feb 16. Metab Brain Dis. 2024. PMID: 38363494
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.
Aguech A, Sfaihi L, Alila-Fersi O, Kolsi R, Tlili A, Kammoun T, Fendri A, Fakhfakh F. Aguech A, et al. Among authors: fakhfakh f. Metab Brain Dis. 2023 Dec;38(8):2665-2678. doi: 10.1007/s11011-023-01276-6. Epub 2023 Sep 1. Metab Brain Dis. 2023. PMID: 37656370
First report of Tunisian patients with CDKL5-related encephalopathy.
Charfi Triki C, Zouari Mallouli S, Ben Jdila M, Ben Said M, Kamoun Feki F, Weckhuysen S, Masmoudi S, Fakhfakh F. Charfi Triki C, et al. Among authors: fakhfakh f. Epilepsia Open. 2023 Sep 13. doi: 10.1002/epi4.12824. Online ahead of print. Epilepsia Open. 2023. PMID: 37701975 Free article.
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Khabou B, Kallabi F, Abdelaziz RB, Maaloul I, Aloulou H, Chehida AB, Kammoun T, Barbu V, Boudawara TS, Fakhfakh F, Khemakhem B, Sahnoun OS. Khabou B, et al. Among authors: fakhfakh f. Ann Hum Genet. 2024 May;88(3):194-211. doi: 10.1111/ahg.12542. Epub 2023 Dec 18. Ann Hum Genet. 2024. PMID: 38108658
A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.
Kharrat M, Issa AB, Tlili A, Jallouli O, Alila-Fersi O, Maalej M, Chouchen J, Ghouylia Y, Kamoun F, Triki C, Fakhfakh F. Kharrat M, et al. Among authors: fakhfakh f. J Mol Neurosci. 2023 Oct;73(9-10):853-864. doi: 10.1007/s12031-023-02163-6. Epub 2023 Oct 10. J Mol Neurosci. 2023. PMID: 37817054
172 results