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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. Among authors: alsagheir a. 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
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.
Zou M, Alzahrani AS, Al-Odaib A, Alqahtani MA, Babiker O, Al-Rijjal RA, BinEssa HA, Kattan WE, Al-Enezi AF, Al Qarni A, Al-Faham MSA, Baitei EY, Alsagheir A, Meyer BF, Shi Y. Zou M, et al. Among authors: alsagheir a. J Clin Endocrinol Metab. 2018 May 1;103(5):1889-1898. doi: 10.1210/jc.2017-02202. J Clin Endocrinol Metab. 2018. PMID: 29546359
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. Among authors: alsagheir a. 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. Among authors: alsagheir a. 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.
72 results