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19 results

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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.
Sarcoidosis: a delayed or missed diagnosis in children.
Al-Mayouf SM, Al-Sonbul A, Al Jumaah S, Al-Hemidan A. Al-Mayouf SM, et al. Ann Saudi Med. 2006 May-Jun;26(3):220-3. doi: 10.5144/0256-4947.2006.220. Ann Saudi Med. 2006. PMID: 16861861 Free PMC article. No abstract available.
A case of de Barsy syndrome with a severe eye phenotype.
Al-Owain M, Alanazi S, Khalifa O, Al-Hemidan A, Al-Ebdi L, Al-Saud B, Alkuraya FS. Al-Owain M, et al. Am J Med Genet A. 2012 Sep;158A(9):2364-6. doi: 10.1002/ajmg.a.35507. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887749 No abstract available.
Novel mutation in GLRB in a large family with hereditary hyperekplexia.
Al-Owain M, Colak D, Al-Bakheet A, Al-Hashmi N, Shuaib T, Al-Hemidan A, Aldhalaan H, Rahbeeni Z, Al-Sayed M, Al-Younes B, Ozand PT, Kaya N. Al-Owain M, et al. Clin Genet. 2012 May;81(5):479-84. doi: 10.1111/j.1399-0004.2011.01661.x. Epub 2011 Apr 7. Clin Genet. 2012. PMID: 21391991
Efficacy of topical cysteamine in nephropathic cystinosis.
Al-Hemidan A, Shoughy SS, Kozak I, Tabbara KF. Al-Hemidan A, et al. Br J Ophthalmol. 2017 Sep;101(9):1234-1237. doi: 10.1136/bjophthalmol-2016-309278. Epub 2017 Jan 5. Br J Ophthalmol. 2017. PMID: 28057644
Mutation in MPDZ causes severe congenital hydrocephalus.
Al-Dosari MS, Al-Owain M, Tulbah M, Kurdi W, Adly N, Al-Hemidan A, Masoodi TA, Albash B, Alkuraya FS. Al-Dosari MS, et al. J Med Genet. 2013 Jan;50(1):54-8. doi: 10.1136/jmedgenet-2012-101294. J Med Genet. 2013. PMID: 23240096
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Patel N, Alkuraya H, Alzahrani SS, Nowailaty SR, Seidahmed MZ, Alhemidan A, Ben-Omran T, Ghazi NG, Al-Aqeel A, Al-Owain M, Alzaidan HI, Faqeih E, Kurdi W, Rahbeeni Z, Ibrahim N, Abdulwahab F, Hashem M, Shaheen R, Abouelhoda M, Monies D, Khan AO, Aldahmesh MA, Alkuraya FS. Patel N, et al. Among authors: alhemidan a. Clin Genet. 2018 Dec;94(6):554-563. doi: 10.1111/cge.13426. Epub 2018 Sep 3. Clin Genet. 2018. PMID: 30054919
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