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824 results

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Page 1
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
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
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.
Afifi HH, Fukai R, Miyake N, Gamal El Din AA, Eid MM, Eid OM, Thomas MM, El-Badry TH, Tosson AM, Abdel-Salam GM, Matsumoto N. Afifi HH, et al. Among authors: eid om, eid mm. Am J Med Genet A. 2015 Oct;167A(10):2418-24. doi: 10.1002/ajmg.a.37185. Epub 2015 May 31. Am J Med Genet A. 2015. PMID: 26033841
Expanding the mutation and clinical spectrum of Roberts syndrome.
Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, Gaber KR. Afifi HH, et al. Among authors: eid mm. Congenit Anom (Kyoto). 2016 Jul;56(4):154-62. doi: 10.1111/cga.12151. Congenit Anom (Kyoto). 2016. PMID: 26710928
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
Miyake N, Abdel-Salam G, Yamagata T, Eid MM, Osaka H, Okamoto N, Mohamed AM, Ikeda T, Afifi HH, Piard J, van Maldergem L, Mizuguchi T, Miyatake S, Tsurusaki Y, Matsumoto N. Miyake N, et al. Among authors: eid mm. Am J Med Genet A. 2016 Oct;170(10):2662-70. doi: 10.1002/ajmg.a.37778. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264538
824 results