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
Yasmina
Elaribi
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
asmina Elaribi 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
Yasmina's work has been cited 60 times across 4 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 and Kidney Cyst Diseases×2Genetic Syndromes and Imprinting×2Erythrocyte Function and Pathophysiology×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
7 works14 Oct 2025Open access
RNA-seq Splicing Profile of the CDH1 Gene and Its Impact on the Clinical Pathogenicity Classification of CDH1 Variants: A Description of Alternative and Pathogenic Splicing PatternsPublisher siteCancers, RNA modifications and cancer
1 May 2025Open access
Directed Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic ObservationsPublisher siteLa Tunisie Médicale, Innovations in Medical Education
26 Aug 2024Open access10cites
Genome Tunisia Project: paving the way for precision medicine in North AfricaPublisher siteGenome Medicine, Genomics and Rare Diseases
1 May 2024
The arthrogryposis - renal dysfunction - cholestasis syndrome: A case reportPublisher siteClinica Chimica Acta, Neurogenetic and Muscular Disorders Research
1 May 2024
Progressive familial intrahepatic cholestasis type 3 or neonatal sclerosing cholangitis? about four Tunisian familiesPublisher siteClinica Chimica Acta, Liver Diseases and Immunity
9 May 20231cites
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes <i>TP63</i> and <i>CNGB3</i>Publisher siteOphthalmic Genetics, Cancer-related Molecular Pathways
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