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Page 1
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations.
Abdel-Salam GMH, Abdel-Hamid MS, Mohammad SA, Abdel-Ghafar SF, Soliman DR, El-Bassyouni HT, Effat L, Zaki MS. Abdel-Salam GMH, et al. Metab Brain Dis. 2017 Jun;32(3):679-683. doi: 10.1007/s11011-017-9993-4. Epub 2017 Mar 23. Metab Brain Dis. 2017. PMID: 28332073
The most encountered groups of genetic disorders in Giza Governorate, Egypt.
Afifi HH, El-Ruby MO, El-Bassyouni HT, Ismail SI, Aglan MS, El-Harouni AA, Mazen IM, Zaki MS, Bassiouni RI, Hosny LA, El-Kamah GY, El-Kotoury AI, Ashour AM, Abdel-Salam GM, El-Gammal MA, Hamed K, Kamal RM, El-Nekhely I, Temtamy SA. Afifi HH, et al. Bratisl Lek Listy. 2010;111(2):62-9. Bratisl Lek Listy. 2010. PMID: 20429316
Ring chromosome 15: expanding the phenotype.
Eid MM, El-Bassyouni HT, Eid OM, Hamad SA, Elgerzawy A, Zaki MS, El-Ruby M. Eid MM, et al. Genet Couns. 2013;24(4):417-25. Genet Couns. 2013. PMID: 24551985
Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS. Abdel-Salam GMH, et al. Am J Med Genet A. 2020 Jun;182(6):1407-1420. doi: 10.1002/ajmg.a.61585. Epub 2020 Apr 8. Am J Med Genet A. 2020. PMID: 32267100
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group; El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Neuray C, et al. Brain. 2020 Aug 1;143(8):2388-2397. doi: 10.1093/brain/awaa178. Brain. 2020. PMID: 32705143 Free PMC article.
58 results