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Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Putoux A, et al. Among authors: alqahtani a. Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27040866 Free article.
Postnatal clinical phenotype of five patients with Pallister-Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature.
Alqahtani AS, Putoux A, Bonnet Dupeyron MN, Carneiro M, Lion-Francois L, Rossi M, Tevissen H, Schluth Bolard C, Labalme A, Lesca G, Till M, Edery P, Sanlaville D. Alqahtani AS, et al. Mol Genet Genomic Med. 2019 Oct;7(10):e00939. doi: 10.1002/mgg3.939. Epub 2019 Aug 27. Mol Genet Genomic Med. 2019. PMID: 31454185 Free PMC article.
Efficacy of low dose nitisinone in the management of alkaptonuria.
Sloboda N, Wiedemann A, Merten M, Alqahtani A, Jeannesson E, Blum A, Henn-Ménétré S, Guéant JL, Renard E, Feillet F. Sloboda N, et al. Among authors: alqahtani a. Mol Genet Metab. 2019 Jul;127(3):184-190. doi: 10.1016/j.ymgme.2019.06.006. Epub 2019 Jun 19. Mol Genet Metab. 2019. PMID: 31235217
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS, Alotibi RS, Aloraini T, Almsned F, Alassali Y, Alfares A, Alhaddad B, Al Eissa MM. Alqahtani AS, et al. Front Genet. 2023 Sep 20;14:1243518. doi: 10.3389/fgene.2023.1243518. eCollection 2023. Front Genet. 2023. PMID: 37799141 Free PMC article.
1,499 results