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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
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
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.
Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Chai G, et al. Neuron. 2021 Jan 20;109(2):241-256.e9. doi: 10.1016/j.neuron.2020.10.035. Epub 2020 Nov 20. Neuron. 2021. PMID: 33220177 Free PMC article.
17 results