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Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Alazami AM, et al. Hum Genet. 2016 May;135(5):525-540. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023906
A high rate of novel CYP11B1 mutations in Saudi Arabia.
Alzahrani AS, Alswailem MM, Murugan AK, Alhomaidah DS, Capper CP, Auchus RJ, Qasem E, Alzahrani OS, Al-Sagheir A, Bin-Abbas B. Alzahrani AS, et al. J Steroid Biochem Mol Biol. 2017 Nov;174:217-224. doi: 10.1016/j.jsbmb.2017.09.018. Epub 2017 Sep 28. J Steroid Biochem Mol Biol. 2017. PMID: 28962970
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.
Faiyaz-Ul-Haque M, AlDhalaan W, AlAshwal A, Bin-Abbas BS, AlSagheir A, Alotaiby M, Rafiq Z, Zaidi SHE. Faiyaz-Ul-Haque M, et al. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):861-868. doi: 10.1515/jpem-2017-0312. J Pediatr Endocrinol Metab. 2018. PMID: 29949513 Free article.
Diagnosis and management of growth disorders in Gulf Cooperation Council (GCC) countries: Current procedures and key recommendations for best practice.
Al Herbish AS, Almutair A, Bin Abbas B, Alsagheir A, Alqahtani M, Kaplan W, Deeb A, El-Awwa A, Al Khawari M, Koledova E, Savage MO. Al Herbish AS, et al. Int J Pediatr Adolesc Med. 2016 Sep;3(3):91-102. doi: 10.1016/j.ijpam.2016.07.002. Epub 2016 Aug 10. Int J Pediatr Adolesc Med. 2016. PMID: 30805477 Free PMC article. Review.
Outcome of COVID19 in Patients With Osteogenesis Imperfecta: A Retrospective Multicenter Study in Saudi Arabia.
Alshukairi AN, Doar H, Al-Sagheir A, Bahasan MA, Sultan AA, Al Hroub MK, Itani D, Khalid I, Saeedi MF, Bakhamis S, Layqah L, Almutairi AA, Saifullah M, Hefni L, Al-Omari A, Alraddadi BM, Baharoon SA. Alshukairi AN, et al. Front Endocrinol (Lausanne). 2022 Jan 13;12:800376. doi: 10.3389/fendo.2021.800376. eCollection 2021. Front Endocrinol (Lausanne). 2022. PMID: 35095767 Free PMC article.
41 results