31 Mar 2026Open access
Assessing the clinical significance of a novel rare variant in Loeys-Dietz Syndrome by combining AI-driven modelling and cell biologyPublisher sitemedRxiv, Connective tissue disorders research
Active, last published 2026
In connective tissue disorders research
Lamia
Benjemaa
Scholar“Research focused on Connective tissue disorders research and adjacent fields.”
University of Tunis El Manar
Tunisia
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01 · About the work
What I study
amia Benjemaa is a researcher working on Connective tissue disorders research. A fuller summary will appear once they update their profile.
02 · Reach
Publication output and reach
Lamia's work has been cited 44 times across 2 active years. Bars show publications per year; the line shows cumulative citation totals across publications first appearing in each year.
03 · Research focus
Topics
Connective tissue disorders research×2Genetic Syndromes and Imprinting×2Chemotherapy-induced organ toxicity mitigation×2
04 · Where I am
Affiliations
Affiliation on published researchTunis University, TunisiaDrawn from the institution listed on this researcher’s published work.
Research themes (UN SDGs)
05 · Selected work
Recent publications
2 works24 Feb 2025Open access2cites
Transcript Long‐Read Sequencing Unveils the Molecular Complexity of a Novel <i>ROGDI</i> Splicing Variant in a Tunisian Family With Kohlschütter‐Tönz SyndromePublisher siteClinical Genetics, RNA Research and Splicing
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