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Biallelic occult macular dystrophy.
Ghali N, Khan AO. Ghali N, et al. Among authors: khan ao. Ophthalmic Genet. 2024 Jun 4:1-3. doi: 10.1080/13816810.2024.2352376. Online ahead of print. Ophthalmic Genet. 2024. PMID: 38831741
A founder variant expands the phenotype of WNT7B-related PDAC syndrome.
AlAbdi L, Rahbeeni Z, Maddirevula S, Helaby R, Abdulwahab F, Khan AO, Riley LG, Alhashem A, Chassaing N, Jamieson RV, Alkuraya FS. AlAbdi L, et al. Among authors: khan ao. Clin Genet. 2024 Jul;106(1):66-71. doi: 10.1111/cge.14512. Epub 2024 Feb 28. Clin Genet. 2024. PMID: 38417950
Inherited retinal diseases and gene therapy update.
Khan AO. Khan AO. Saudi J Ophthalmol. 2023 Dec 21;37(4):261-262. doi: 10.4103/sjopt.sjopt_295_23. eCollection 2023 Oct-Dec. Saudi J Ophthalmol. 2023. PMID: 38155682 Free PMC article. No abstract available.
Full-field electroretinography - when do we need it?
Khan AO. Khan AO. Saudi J Ophthalmol. 2023 Oct 24;37(4):263-268. doi: 10.4103/sjopt.sjopt_126_23. eCollection 2023 Oct-Dec. Saudi J Ophthalmol. 2023. PMID: 38155681 Free PMC article.
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
AlAbdi L, Shamseldin HE, Khouj E, Helaby R, Aljamal B, Alqahtani M, Almulhim A, Hamid H, Hashem MO, Abdulwahab F, Abouyousef O, Jaafar A, Alshidi T, Al-Owain M, Alhashem A, Al Tala S, Khan AO, Mardawi E, Alkuraya H, Faqeih E, Afqi M, Alkhalifi S, Rahbeeni Z, Hagos ST, Al-Ahmadi W, Nadeef S, Maddirevula S, Khabar KSA, Putra A, Angelov A, Park C, Reyes-Ramos AM, Umer H, Ullah I, Driguez P, Fukasawa Y, Cheung MS, Gallouzi IE, Alkuraya FS. AlAbdi L, et al. Among authors: khan ao. Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8. Genome Med. 2023. PMID: 38098057 Free PMC article.
The bone marrow is the primary site of thrombopoiesis.
Asquith NL, Carminita E, Camacho V, Rodriguez-Romera A, Stegner D, Freire D, Becker IC, Machlus KR, Khan AO, Italiano JE. Asquith NL, et al. Among authors: khan ao. Blood. 2024 Jan 18;143(3):272-278. doi: 10.1182/blood.2023020895. Blood. 2024. PMID: 37879046
365 results