Hizem, Syrine

Top Publications

Top Publications Authored or Co-Authored by "Hizem, Syrine"

• Turner syndrome: Results of the first Tunisian study group on Turner syndrome (TuSGOT)

  Journal of Pediatric Endocrinology and Metabolism, Volume 36, No. 6, Year 2023, Citations 35
• First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

  BMC Medical Genetics, Volume 18, No. 1, Article 134, Year 2017, Citations 20
• Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature

  Molecular Genetics and Genomic Medicine, Volume 9, No. 10, Article e1796, Year 2021, Citations 14
• New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene

  BMC Medical Genomics, Volume 14, No. 1, Article 160, Year 2021, Citations 14
• In vitro functional characterization of the novel DHH mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis

  Human Mutation, Volume 39, No. 12, Year 2018, Citations 12