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Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.
Habibi I, Falfoul Y, Tran HV, El Matri K, Chebil A, El Matri L, Schorderet DF. Habibi I, et al. Front Cell Dev Biol. 2021 Feb 5;9:625560. doi: 10.3389/fcell.2021.625560. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33634125 Free PMC article.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A, Zagaglia S, Menzies L, Baptista J, Caswell R, Baulac S, Ellard S, Lynch S; Genomics England Research Consortium; Jacques TS, Chawla MS, Heier M, Kulseth MA, Mero IL, Våtevik AK, Kraoua I, Ben Rhouma H, Ben Younes T, Miladi Z, Ben Youssef Turki I, Jones WD, Clement E, Eltze C, Mankad K, Merve A, Parker J, Hoskins B, Pressler R, Sudhakar S, DeVile C, Homfray T, Kaliakatsos M; Ponnudas (Prab) Prabhakar; Robinson R, Keim SMB, Habibi I, Reymond A, Sisodiya SM, Hurst JA. Ververi A, et al. Among authors: habibi i. Hum Mol Genet. 2023 Jan 27;32(4):580-594. doi: 10.1093/hmg/ddac225. Hum Mol Genet. 2023. PMID: 36067010 Free PMC article.
Genetic spectrum of retinal dystrophies in Tunisia.
Habibi I, Falfoul Y, Turki A, Hassairi A, El Matri K, Chebil A, Schorderet DF, El Matri L. Habibi I, et al. Sci Rep. 2020 Jul 8;10(1):11199. doi: 10.1038/s41598-020-67792-y. Sci Rep. 2020. PMID: 32641690 Free PMC article.
Posterior staphylomas in non-highly myopic eyes with retinitis pigmentosa.
El Matri L, Falfoul Y, El Matri K, El Euch I, Ghali H, Habibi I, Hassairi A, Chaker N, Schorderet D, Chebil A. El Matri L, et al. Among authors: habibi i. Int Ophthalmol. 2020 Sep;40(9):2159-2168. doi: 10.1007/s10792-020-01396-3. Epub 2020 May 2. Int Ophthalmol. 2020. PMID: 32358734
20 results