El-Ruby MO - Search Results

1

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

Abdel-Salam GM, Flores-Sarnat L, El-Ruby MO, Parboosingh J, Bridge P, Eid MM, El-Badry TH, Effat L, Curatolo P, Temtamy SA. Abdel-Salam GM, et al. Am J Med Genet A. 2011 Jan;155A(1):207-14. doi: 10.1002/ajmg.a.33777. Am J Med Genet A. 2011. PMID: 21204234

2

Growth charts of Egyptian children with Down syndrome (0-36 months).

Meguid NA, El-Kotoury AI, Abdel-Salam GM, El-Ruby MO, Afifi HH. Meguid NA, et al. East Mediterr Health J. 2004 Jan-Mar;10(1-2):106-15. East Mediterr Health J. 2004. PMID: 16201715 Free article.

3

Phenotypic and cytogenetic spectrum of 9p trisomy.

Temtamy SA, Kamel AK, Ismail S, Helmy NA, Aglan MS, El Gammal M, El Ruby M, Mohamed AM. Temtamy SA, et al. Genet Couns. 2007;18(1):29-48. Genet Couns. 2007. PMID: 17515299

4

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

5

Bartsocas-Papas syndrome with variable expressivity in an Egyptian family.

Zaki MS, Kamel AK, Effat LK, El-Ruby MO. Zaki MS, et al. Genet Couns. 2012;23(2):269-79. Genet Couns. 2012. PMID: 22876587

6

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

7

Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.

Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA. Aglan M, et al. Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18. Am J Med Genet A. 2015. PMID: 26284319

8

A FEMALE PATIENT WITH DUPLICATION OF 7p13-pter ASSOCIATED WITH DEL 20p13pter RESULTING FROM MALSEGREGATED PATERNAL 7;20 BALANCED TRANSLOCATION.

Eid MO, Eid MM, Kamel AK, El-Ruby M, Abdel-Salam GM. Eid MO, et al. Genet Couns. 2015;26(2):153-61. Genet Couns. 2015. PMID: 26349184

9

Identification of a novel homozygous ALX4 mutation in two unrelated patients with frontonasal dysplasia type-2.

El-Ruby M, El-Din Fayez A, El-Dessouky SH, Aglan MS, Mazen I, Ismail N, Afifi HH, Eid MM, Mostafa MI, Mehrez MI, Khalil Y, Zaki MS, Gaber KR, Abdel-Hamid MS, Abdel-Salam GMH. El-Ruby M, et al. Am J Med Genet A. 2018 May;176(5):1190-1194. doi: 10.1002/ajmg.a.38655. Am J Med Genet A. 2018. PMID: 29681084

10

Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Zaki MS, Otaify GA, Ismail S, Issa MY, El-Ruby MO, Sadek AA, Ashaat EA, El Saeidi SA, Aglan MS, Temtamy S, Abdel-Hamid MS. Zaki MS, et al. Among authors: el ruby mo. Am J Med Genet A. 2020 Dec;182(12):2857-2866. doi: 10.1002/ajmg.a.61857. Epub 2020 Sep 19. Am J Med Genet A. 2020. PMID: 32949109

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