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Combined TSC1 and LMX1B mutations in a single patient.
Khalifa O, Al-Sakati N, Al-Mane K, Balobaid A, Al-Hassnan ZN. Khalifa O, et al. Clin Dysmorphol. 2014 Apr;23(2):47-51. doi: 10.1097/MCD.0000000000000025. Clin Dysmorphol. 2014. PMID: 24477276
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM. Altassan R, et al. Among authors: khalifa o. Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120. Am J Med Genet A. 2017. PMID: 28328124
Optic neuropathy in classical methylmalonic acidemia.
AlOwain M, Khalifa OA, Al Sahlawi Z, Hussein MH, Sulaiman RA, Al-Sayed M, Rahbeeni Z, Al-Hassnan Z, Al-Zaidan H, Nezzar H, Al Homoud I, Eldali A, Altonen B, Handoom BS, Mbekeani JN. AlOwain M, et al. Ophthalmic Genet. 2019 Aug;40(4):313-322. doi: 10.1080/13816810.2019.1634740. Epub 2019 Jul 4. Ophthalmic Genet. 2019. PMID: 31269850
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS. Khalifa OA, et al. Am J Med Genet A. 2020 Nov;182(11):2486-2500. doi: 10.1002/ajmg.a.61806. Epub 2020 Aug 19. Am J Med Genet A. 2020. PMID: 32812330
68 results