Ines Harzallah

Avenue Albert Raimond
Saint-priest-la-vetre, 42270, France

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 32 publications

Genotyping methods for Fuchs corneal endothelial dystrophy.

Genotyping methods for Fuchs corneal endothelial dystrophy.

Journal: Journal francais d'ophtalmologie

Published: June 09, 2024

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Protein-extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation.

Journal: Annals of clinical and translational neurology

Published: February 25, 2024

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.

Rare ACTN2 Frameshift Variants Resulting in Protein Extension Cause Distal Myopathy and Hypertrophic Cardiomyopathy through Protein Aggregation.

Journal: medRxiv : the preprint server for health sciences

Published: January 31, 2024

Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.

Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.

Journal: Life (Basel, Switzerland)

Published: November 25, 2023

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

Expanding the clinical spectrum of Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

Journal: European journal of medical genetics

Published: November 17, 2023

Genetic diffuse cystic lung disease in adults

Genetic diffuse cystic lung disease in adults

Journal: Revue des maladies respiratoires

Published: May 29, 2023

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.

Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.

Journal: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Published: December 30, 2022

Heparin monitoring during extracorporeal membrane oxygenation: the effect of dextran sulfate on anti-Xa assay.

Heparin monitoring during extracorporeal membrane oxygenation: the effect of dextran sulfate on anti-Xa assay.

Journal: Research and practice in thrombosis and haemostasis

Published: December 16, 2022

Bundles of Auer rods in mature neutrophils in an acute myeloid leukaemia patient with inv(16)(p13.1q22) CBFB-MYH 11.

Bundles of Auer rods in mature neutrophils in an acute myeloid leukaemia patient with inv(16)(p13.1q22) CBFB-MYH 11.

Journal: British journal of haematology

Published: September 08, 2022

Acquired Thrombotic Thrombocytopenic Purpura After BNT162b2 COVID-19 Vaccine: Case Report and Literature Review.

Acquired Thrombotic Thrombocytopenic Purpura After BNT162b2 COVID-19 Vaccine: Case Report and Literature Review.

Journal: Laboratory medicine

Published: April 28, 2022

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

Journal: American journal of human genetics

Published: April 01, 2022

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Journal: Journal of medical genetics

Published: January 10, 2022

Showing 1-12 of 32

Last Updated: 09/26/2026