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Page 1
Expanding the phenome and variome of skeletal dysplasia.
Genet Med. 2018 Dec;20(12):1609-1616. doi: 10.1038/gim.2018.50. Epub 2018 Apr 5.
Genet Med. 2018.
PMID: 29620724
Free article.
A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1.
Huneif MA, Alhazmy ZH, Shoomi AM, Alghofely MA, Heena H, Mushiba AM, AlSaheel A.
Huneif MA, et al. Among authors: mushiba am.
J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):244-250. doi: 10.4274/jcrpe.galenos.2021.2020.0175. Epub 2021 Apr 8.
J Clin Res Pediatr Endocrinol. 2022.
PMID: 33829730
Free PMC article.
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The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Mushiba AM, Faqeih E E A Faqeih, Saleh MA, Ramzan K, Imtiaz F, Al-Owain M, Alhashem AM, Alswaid A.
Mushiba AM, et al.
Am J Med Genet A. 2021 Aug;185(8):2455-2463. doi: 10.1002/ajmg.a.62230. Epub 2021 May 8.
Am J Med Genet A. 2021.
PMID: 33963797
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Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Saleh MM, Hamhom AM, Al-Otaibi A, AlGhamdi M, Housawi Y, Aljadhai YI, Alameer S, Almannai M, Jad LA, Alwadei AH, Tabassum S, Alsaman A, AlAsmari A, Al Mutairi F, Althiyab H, Bashiri FA, AlHumaidi S, Alfadhel M, Mink JW, AlHashim A, Faqeih EA; Saudi NCL Study Consortium.
Saleh MM, et al.
Pediatr Neurol. 2024 Mar 7;155:149-155. doi: 10.1016/j.pediatrneurol.2024.03.004. Online ahead of print.
Pediatr Neurol. 2024.
PMID: 38653183
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A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL).
Alomaim MM, Mushiba AM.
Alomaim MM, et al. Among authors: mushiba am.
Cureus. 2023 Jan 12;15(1):e33682. doi: 10.7759/cureus.33682. eCollection 2023 Jan.
Cureus. 2023.
PMID: 36643085
Free PMC article.
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