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Page 1
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Alsharhan H, Ahmed AA, Ali NM, Alahmad A, Albash B, Elshafie RM, Alkanderi S, Elkazzaz UM, Cyril PX, Abdelrahman RM, Elmonairy AA, Ibrahim SM, Elfeky YME, Sadik DI, Al-Enezi SD, Salloum AM, Girish Y, Al-Ali M, Ramadan DG, Alsafi R, Al-Rushood M, Bastaki L. Alsharhan H, et al. Among authors: alkanderi s. Int J Neonatal Screen. 2021 Aug 17;7(3):56. doi: 10.3390/ijns7030056. Int J Neonatal Screen. 2021. PMID: 34449519 Free PMC article.
Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model.
Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, Devlin LA, White K, Steel DH, Saunier S, Miles CG, Sayer JA. Ramsbottom SA, et al. Among authors: alkanderi s. Proc Natl Acad Sci U S A. 2018 Dec 4;115(49):12489-12494. doi: 10.1073/pnas.1809432115. Epub 2018 Nov 16. Proc Natl Acad Sci U S A. 2018. PMID: 30446612 Free PMC article.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA. Alkanderi S, et al. Am J Hum Genet. 2018 Oct 4;103(4):612-620. doi: 10.1016/j.ajhg.2018.08.015. Epub 2018 Sep 27. Am J Hum Genet. 2018. PMID: 30269812 Free PMC article.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants.
Molinari E, Decker E, Mabillard H, Tellez J, Srivastava S, Raman S, Wood K, Kempf C, Alkanderi S, Ramsbottom SA, Miles CG, Johnson CA, Hildebrandt F, Bergmann C, Sayer JA. Molinari E, et al. Among authors: alkanderi s. Eur J Hum Genet. 2018 Dec;26(12):1791-1796. doi: 10.1038/s41431-018-0212-5. Epub 2018 Jul 12. Eur J Hum Genet. 2018. PMID: 30002499 Free PMC article.
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
Enerbäck S, Nilsson D, Edwards N, Heglind M, Alkanderi S, Ashton E, Deeb A, Kokash FEB, Bakhsh ARA, Van't Hoff W, Walsh SB, D'Arco F, Daryadel A, Bourgeois S, Wagner CA, Kleta R, Bockenhauer D, Sayer JA. Enerbäck S, et al. Among authors: alkanderi s. J Am Soc Nephrol. 2018 Mar;29(3):1041-1048. doi: 10.1681/ASN.2017080840. Epub 2017 Dec 14. J Am Soc Nephrol. 2018. PMID: 29242249 Free PMC article.
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