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Page 1
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Alfadhel M, Umair M, Almuzzaini B, Alsaif S, AlMohaimeed SA, Almashary MA, Alharbi W, Alayyar L, Alasiri A, Ballow M, AlAbdulrahman A, Alaujan M, Nashabat M, Al-Odaib A, Altwaijri W, Al-Rumayyan A, Alrifai MT, Alfares A, AlBalwi M, Tabarki B. Alfadhel M, et al. Among authors: nashabat m. Ann Clin Transl Neurol. 2019 Oct;6(10):2097-2103. doi: 10.1002/acn3.50898. Epub 2019 Sep 26. Ann Clin Transl Neurol. 2019. PMID: 31557427 Free PMC article.
Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis in Zebrafish.
Umair M, Farooq Khan M, Aldrees M, Nashabat M, Alhamoudi KM, Bilal M, Alyafee Y, Al Tuwaijri A, Aldarwish M, Al-Rumayyan A, Alkhalaf H, Wadaan MAM, Alfadhel M. Umair M, et al. Among authors: nashabat m. Front Cell Dev Biol. 2021 Oct 1;9:736960. doi: 10.3389/fcell.2021.736960. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34660594 Free PMC article.
PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.
Alfadhel M, Nashabat M, Hundallah K, Al Hashem A, Alrumayyan A, Tabarki B. Alfadhel M, et al. Among authors: nashabat m. Child Neurol Open. 2018 Jan 11;5:2329048X17752237. doi: 10.1177/2329048X17752237. eCollection 2018. Child Neurol Open. 2018. PMID: 29372174 Free PMC article.
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J, Eyaid W, Ali R, Alasmari A, Kara M, Al-Twaijri W, Filimban R, Alshenqiti A, Al-Owain M, Faqeih E, Alkuraya FS. Al Mutairi F, et al. Among authors: nashabat m. Pediatr Neurol. 2018 Jan;78:35-40. doi: 10.1016/j.pediatrneurol.2017.09.002. Epub 2017 Oct 5. Pediatr Neurol. 2018. PMID: 29239743
28 results