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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 1 |
2021 | 2 |
2022 | 4 |
2023 | 2 |
2024 | 1 |
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7 results
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Page 1
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Ophthalmic Genet. 2024 Feb;45(1):84-94. doi: 10.1080/13816810.2023.2206891. Epub 2023 May 9.
Ophthalmic Genet. 2024.
PMID: 37158316
The Identification of Large Rearrangements Involving Intron 2 of the CDH1 Gene in BRCA1/2 Negative and Breast Cancer Susceptibility.
Ben Aissa-Haj J, Pinheiro H, Cornelis F, Sebai M, Meseure D, Briaux A, Berteaux P, Lefol C, Des Guetz G, Trassard M, Stevens D, Vialard F, Bieche I, Noguès C, Tang R, Oliveira C, Stoppat-Lyonnet D, Lidereau R, Rouleau E.
Ben Aissa-Haj J, et al. Among authors: sebai m.
Genes (Basel). 2022 Nov 25;13(12):2213. doi: 10.3390/genes13122213.
Genes (Basel). 2022.
PMID: 36553480
Free PMC article.
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A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.
Maamouri R, Hizem S, Kammoun I, Elaribi Y, Rejeb I, Sebai M, Jilani H, Rouzier C, Cheour M, Paquis-Flucklinger V, Ben Jemaa L.
Maamouri R, et al. Among authors: sebai m.
Ophthalmic Genet. 2023 Jun;44(3):304-312. doi: 10.1080/13816810.2022.2113546. Epub 2022 Sep 12.
Ophthalmic Genet. 2023.
PMID: 36094066
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A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.
Jilani H, Hsoumi F, Rejeb I, Elaribi Y, Hizem S, Sebai M, Rolfs A, Benjemaa L.
Jilani H, et al. Among authors: sebai m.
Clin Case Rep. 2022 May 12;10(5):e05846. doi: 10.1002/ccr3.5846. eCollection 2022 May.
Clin Case Rep. 2022.
PMID: 35592045
Free PMC article.
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Novel germline MET pathogenic variants in French patients with papillary renal cell carcinomas type I.
Sebai M, Tulasne D, Caputo SM, Verkarre V, Fernandes M, Guérin C, Reinhart F, Adams S, Maugard C, Caron O, Guillaud-Bataille M, Berthet P, Bignon YJ, Bressac-de Paillerets B, Burnichon N, Chiesa J, Giraud S, Lejeune S, Limacher JM, de Pauw A, Stoppa-Lyonnet D, Zattara-Cannoni H, Deveaux S, Lidereau R, Richard S, Rouleau E.
Sebai M, et al.
Hum Mutat. 2022 Mar;43(3):316-327. doi: 10.1002/humu.24313. Epub 2022 Jan 19.
Hum Mutat. 2022.
PMID: 34882875
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Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature.
Sassi H, Elaribi Y, Jilani H, Rejeb I, Hizem S, Sebai M, Kasdallah N, Bouthour H, Hannachi S, Beygo J, Saad A, Buiting K, H'mida Ben-Brahim D, BenJemaa L.
Sassi H, et al. Among authors: sebai m.
Mol Genet Genomic Med. 2021 Oct;9(10):e1796. doi: 10.1002/mgg3.1796. Epub 2021 Sep 12.
Mol Genet Genomic Med. 2021.
PMID: 34510813
Free PMC article.
Review.
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Mucopolysaccharidosis type VII as a cause of recurrent Non-Immune Hydrops Fetalis: The first Tunisian case confirmed by Next-Generation Sequencing.
Hizem S, Elaribi Y, Ben Slama S, Dimassi K, Jilani H, Rejeb I, Sebaï M, Bekri S, Ben Jemaa L.
Hizem S, et al. Among authors: sebai m.
Clin Chim Acta. 2021 Feb;513:68-70. doi: 10.1016/j.cca.2020.12.027. Epub 2020 Dec 29.
Clin Chim Acta. 2021.
PMID: 33382994
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