Alreheli AQ - Search Results

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Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.

Albarry MA, Latif M, Alreheli AQ, Awadh MA, Almatrafi AM, Albalawi AM, Basit S. Albarry MA, et al. Among authors: alreheli aq. PLoS One. 2021 Feb 11;16(2):e0246607. doi: 10.1371/journal.pone.0246607. eCollection 2021. PLoS One. 2021. PMID: 33571247 Free PMC article.

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.

Albarry MA, Hashmi JA, Alreheli AQ, Albalawi AM, Khan B, Ramzan K, Basit S. Albarry MA, et al. Among authors: alreheli aq. Ophthalmic Genet. 2019 Dec;40(6):507-513. doi: 10.1080/13816810.2019.1703014. Epub 2019 Dec 13. Ophthalmic Genet. 2019. PMID: 31833436

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.

Albarry MA, Alreheli AQ, Albalawi AM, Basit S. Albarry MA, et al. Among authors: alreheli aq. Saudi J Ophthalmol. 2019 Oct-Dec;33(4):326-331. doi: 10.1016/j.sjopt.2019.09.004. Epub 2019 Sep 18. Saudi J Ophthalmol. 2019. PMID: 31920441 Free PMC article.

The clinical characteristics of Duane retraction syndrome in Al-Medina region.

Alreheli AQ, Aloufi MM, Aalam W, Kordi ES, Al-Habboubi HF. Alreheli AQ, et al. Saudi J Ophthalmol. 2019 Oct-Dec;33(4):338-341. doi: 10.1016/j.sjopt.2019.07.007. Epub 2019 Aug 8. Saudi J Ophthalmol. 2019. PMID: 31920443 Free PMC article.

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