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A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006206. doi: 10.1101/mcs.a006206. Print 2022 Jun.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 35732499
Free PMC article.
A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.
Al-Kurbi AA, Da'as SI, Aamer W, Krishnamoorthy N, Poggiolini I, Abdelrahman D, Elbashir N, Al-Shabeeb Akil A, Glass GE, Fakhro KA.
Al-Kurbi AA, et al. Among authors: al shabeeb akil a.
Eur J Med Genet. 2022 Apr;65(4):104455. doi: 10.1016/j.ejmg.2022.104455. Epub 2022 Feb 16.
Eur J Med Genet. 2022.
PMID: 35182808
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Patterns and distribution of de novo mutations in multiplex Middle Eastern families.
Kohailan M, Aamer W, Syed N, Padmajeya S, Hussein S, Sayed A, Janardhanan J, Palaniswamy S, El Hajj N, Al-Shabeeb Akil A, Fakhro KA.
Kohailan M, et al. Among authors: al shabeeb akil a.
J Hum Genet. 2022 Oct;67(10):579-588. doi: 10.1038/s10038-022-01054-9. Epub 2022 Jun 20.
J Hum Genet. 2022.
PMID: 35718832
Free PMC article.
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Molecular Analysis and Conformational Dynamics of Human MC4R Disease-Causing Mutations.
Fatima MT, Islam Z, Kolatkar PR, Al-Shabeeb Akil AS.
Fatima MT, et al. Among authors: al shabeeb akil as.
Molecules. 2022 Jun 23;27(13):4037. doi: 10.3390/molecules27134037.
Molecules. 2022.
PMID: 35807283
Free PMC article.
Item in Clipboard
Extracellular vesicles as tools and targets in therapy for diseases.
Kumar MA, Baba SK, Sadida HQ, Marzooqi SA, Jerobin J, Altemani FH, Algehainy N, Alanazi MA, Abou-Samra AB, Kumar R, Al-Shabeeb Akil AS, Macha MA, Mir R, Bhat AA.
Kumar MA, et al. Among authors: al shabeeb akil as.
Signal Transduct Target Ther. 2024 Feb 5;9(1):27. doi: 10.1038/s41392-024-01735-1.
Signal Transduct Target Ther. 2024.
PMID: 38311623
Free PMC article.
Review.
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The role of dietary antioxidants in type 2 diabetes and neurodegenerative disorders: An assessment of the benefit profile.
Fatima MT, Bhat AA, Nisar S, Fakhro KA, Al-Shabeeb Akil AS.
Fatima MT, et al. Among authors: al shabeeb akil as.
Heliyon. 2022 Dec 30;9(1):e12698. doi: 10.1016/j.heliyon.2022.e12698. eCollection 2023 Jan.
Heliyon. 2022.
PMID: 36632095
Free PMC article.
Review.
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