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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. Among authors: eid m. 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
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC).
Briggs TA, Abdel-Salam GM, Balicki M, Baxter P, Bertini E, Bishop N, Browne BH, Chitayat D, Chong WK, Eid MM, Halliday W, Hughes I, Klusmann-Koy A, Kurian M, Nischal KK, Rice GI, Stephenson JB, Surtees R, Talbot JF, Tehrani NN, Tolmie JL, Toomes C, van der Knaap MS, Crow YJ. Briggs TA, et al. Among authors: eid mm. Am J Med Genet A. 2008 Jan 15;146A(2):182-90. doi: 10.1002/ajmg.a.32080. Am J Med Genet A. 2008. PMID: 18076099
Ectodermal abnormalities in patients with Kabuki syndrome.
Abdel-Salam GM, Afifi HH, Eid MM, El-Badry TH, Kholoussi N. Abdel-Salam GM, et al. Among authors: eid mm. Pediatr Dermatol. 2011 Sep-Oct;28(5):507-11. doi: 10.1111/j.1525-1470.2011.01495.x. Epub 2011 Jun 22. Pediatr Dermatol. 2011. PMID: 21692838
A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N. Abdel-Salam GM, et al. Among authors: eid om, eid mm. Am J Med Genet A. 2011 Nov;155A(11):2885-96. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11. Am J Med Genet A. 2011. PMID: 21990275
Anti-diuretic hormone and genetic study in primary nocturnal enuresis.
Fatouh AA, Motawie AA, Abd Al-Aziz AM, Hamed HM, Awad MA, El-Ghany AA, El Bassyouni HT, Shehab MI, Eid MM. Fatouh AA, et al. Among authors: eid mm. J Pediatr Urol. 2013 Dec;9(6 Pt A):831-7. doi: 10.1016/j.jpurol.2012.11.009. Epub 2012 Dec 14. J Pediatr Urol. 2013. PMID: 23246575
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. Among authors: eid om. Genet Couns. 2013;24(4):417-25. Genet Couns. 2013. PMID: 24551985
742 results