Yasmina Elaribi

Al Marsa, Tunisia

Last Updated: 09/26/2026

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Found 10 publications

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM.

Journal: Annals of clinical and translational neurology

Published: September 10, 2025

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 Patterns.

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 Patterns.

Journal: Cancers

Published: May 23, 2025

Directed Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.

Directed Teaching of Clinical Reasoning in the Fourth Year of Medical School: A Structured Summary of Genetic Observations.

Journal: La Tunisie medicale

Published: November 26, 2024

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.

Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.

Journal: Ophthalmic genetics

Published: May 09, 2023

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Journal: Ophthalmic genetics

Published: September 12, 2022

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

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.

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

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.

Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: October 11, 2020

New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.

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.

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

Journal: BMC medical genetics

Published: March 24, 2017

Showing 1-10 of 10

Last Updated: 09/26/2026