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Page 1
Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.
Neurosciences (Riyadh). 2020 Aug;25(4):287-291. doi: 10.17712/nsj.2020.4.20200045.
Neurosciences (Riyadh). 2020.
PMID: 33130809
Free PMC article.
Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course.
Maroofian R, Gubas A, Kaiyrzhanov R, Scala M, Hundallah K, Severino M, Abdel-Hamid MS, Rosenfeld JA, Ebrahimi-Fakhari D, Ali Z, Rahim F, Houlden H, Tooze SA, Alsaleh NS, Zaki MS.
Maroofian R, et al. Among authors: alsaleh ns.
Brain Commun. 2021 Sep 3;3(3):fcab183. doi: 10.1093/braincomms/fcab183. eCollection 2021.
Brain Commun. 2021.
PMID: 34557665
Free PMC article.
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A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM.
Mendelsohn BA, et al. Among authors: alsaleh ns.
Am J Med Genet A. 2020 Mar;182(3):513-520. doi: 10.1002/ajmg.a.61450. Epub 2019 Dec 27.
Am J Med Genet A. 2020.
PMID: 31880405
Free PMC article.
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