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Molka Sebaï

Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I
2021 · Molka Sebai, David Tulasne, et al. · Human Mutation · 19
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The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility
2022 · Jihenne Ben Aissa-Haj, Hugo Pinheiro, et al. · Genes · 5
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A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report
2022 · Houweyda Jilani, Faten Hsoumi, et al. · Clinical Case Reports · 4
Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
2021 · Hela Sassi, Yasmina Elaribi, et al. · Molecular Genetics & Genomic Medicine · 4
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Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3
2023 · Syrine Hizem, Rym Maamouri, et al. · Ophthalmic Genetics · 2
Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing
2020 · Syrine Hizem, Yasmina Elaribi, et al. · Clinica Chimica Acta · 2
A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1
2022 · Rym Maamouri, Syrine Hizem, et al. · Ophthalmic Genetics · 1
586P BRCA1, BRCA2 and RAD51C somatic RNAseq study in ovarian cancer: A description of physiological and pathogenic splicing patterns
2022 · M. Sebai, R. Tang, et al. · Annals of Oncology · 1
BARD1 and breast cancer genetic predisposition: case–control study and HRD signature analysis
2026 · Marie-Florence Reveneau, Antoine De Pauw, et al. · Breast Cancer
Spectrum of Genetic Variants in Hereditary Breast and Ovarian Cancer Syndrome in Tunisian Patients: A Clinical Study with Literature Review
2026 · Yasmina Elaribi, Walid Ben Yedder, et al. · La Tunisie Médicale
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Impact de l'épissage alternatif dans la prédisposition aux cancers et dans la réponse aux traitements : application au cancer du sein et de l'ovaire
2025 · Molka Sebai · theses.fr (ABES)
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
2025 · Molka Sebai, Roseline Tang, et al. · Cancers
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2021 · Hela Sassi, Yasmina Elaribi, et al. · Molecular Genetics & Genomic Medicine
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Works count: 14
Citation count: 38
H-index: 4
I10-index: 1
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