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2008 1
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Page 1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS. AlAbdi L, et al. Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3. Nat Commun. 2023. PMID: 37644014 Free PMC article.
Pseudoaminopterin syndrome.
Kraoua L, Capri Y, Perrin L, Benmansour A, Verloes A. Kraoua L, et al. Am J Med Genet A. 2012 Sep;158A(9):2233-8. doi: 10.1002/ajmg.a.35212. Epub 2012 Jul 18. Am J Med Genet A. 2012. PMID: 22811276
Genetic study of Alport syndrome in Tunisia.
Younsi ME, Achour A, Kraoua L, Nesrine M, Sayari T, Abderrahim E, Laabidi J, Zouaghi MK, Kharrat M, Gargah T, Trabelsi M, M'rad R. Younsi ME, et al. Among authors: kraoua l. Pediatr Nephrol. 2025 Jan;40(1):103-116. doi: 10.1007/s00467-024-06474-7. Epub 2024 Aug 14. Pediatr Nephrol. 2025. PMID: 39138691
WDR73-related galloway mowat syndrome with collapsing glomerulopathy.
El Younsi M, Kraoua L, Meddeb R, Ferjani M, Trabelsi M, Ouertani I, Maazoul F, Abid N, Gargah T, M'rad R. El Younsi M, et al. Among authors: kraoua l. Eur J Med Genet. 2019 Sep;62(9):103550. doi: 10.1016/j.ejmg.2018.10.002. Epub 2018 Oct 10. Eur J Med Genet. 2019. PMID: 30315938
Genome Tunisia Project: paving the way for precision medicine in North Africa.
Hamdi Y, Trabelsi M, Ghedira K, Boujemaa M, Ben Ayed I, Charfeddine C, Souissi A, Rejeb I, Kammoun Rebai W, Hkimi C, Neifar F, Jandoubi N, Mkaouar R, Chaouch M, Bennour A, Kamoun S, Chaker Masmoudi H, Abid N, Mezghani Khemakhem M; GTCA Consortium; Masmoudi S, Saad A, BenJemaa L, BenKahla A, Boubaker S, Mrad R, Kamoun H, Abdelhak S, Gribaa M, Belguith N, Kharrat N, Hmida D, Rebai A. Hamdi Y, et al. Genome Med. 2024 Aug 27;16(1):104. doi: 10.1186/s13073-024-01365-w. Genome Med. 2024. PMID: 39187811 Free PMC article.
32 results