Ben Youssef-Turki, Ilhem

Top Publications

Top Publications Authored or Co-Authored by "Ben Youssef-Turki, Ilhem"

• Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

  Human Molecular Genetics, Volume 32, No. 4, Year 2023, Citations 38
• ABCB1 polymorphisms and drug-resistant epilepsy in a Tunisian population

  Disease Markers, Volume 2019, Article 1343650, Year 2019, Citations 23
• Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment

  Bioscience Reports, Volume 42, No. 9, Article BSR20220194, Year 2022, Citations 17
• Association between clinical expression and molecular heterogeneity in b-thalassemia Tunisian patients

  Molecular Biology Reports, Volume 40, No. 11, Year 2013, Citations 17
• Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia

  Molecular Genetics and Genomic Medicine, Volume 7, No. 9, Article e914, Year 2019, Citations 13