Lamia Benjemaa
Al Marsa, Tunisia
Last Updated: 09/26/2026
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Found 8 publications
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.
Journal: Annals of clinical and translational neurology
Published: September 10, 2025
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome.
Journal: Clinical genetics
Published: January 03, 2025
Genome Tunisia Project: paving the way for precision medicine in North Africa.
Journal: Genome medicine
Published: May 02, 2023
Craniofacial Malformations as Fundamental Diagnostic Tools in Syndromic Entities.
Journal: Diagnostics (Basel, Switzerland)
Published: August 17, 2022
A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.
Journal: Clinical case reports
Published: August 21, 2021
Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Journal: Molecular genetics & genomic medicine
Published: April 28, 2021
New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.
Journal: BMC medical genomics
Published: October 01, 2020
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.
Journal: BMC medical genetics
Published: March 24, 2017
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Last Updated: 09/26/2026