1. Clinical and cytogenetic description of three patients with constitutional mosaic trisomy 8. Issue 1 (January 2017) Authors: Ismail, Samira; Kamel, Alaa K.; Eid, Maha M.; Elruby, Mona O.; Aglan, Mona S.; Mekkawy, Mona K.; Zaki, Maha S.; Mohamed, Amal M.; Helmy, Nivine A.; Temtamy, Samia A. Journal: Middle East journal of medical genetics Issue: Volume 6:Issue 1(2017:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations. (18th August 2015) Authors: Aglan, Mona; Amr, Khalda; Ismail, Samira; Ashour, Adel; Otaify, Ghada A.; Mehrez, Mennat Allah I.; Aboul‐Ezz, Eman H. A.; El‐Ruby, Mona; Mazen, Inas; Abdel‐Hamid, Mohamed S.; Temtamy, Samia A. Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3054 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Exome sequencing in the diagnosis of an atypical phenotype of infantile hyalinosis. Issue 1 (January 2015) Authors: Temtamy, Samia A.; Aglan, Mona S.; Otaify, Ghada A.; Abdel-Hamid, Mohamed; Ismail, Somaia; Makrythanasis, Periklis; Hamamy, Hanan; Antonarakis, Stylianos E. Journal: Middle East journal of medical genetics Issue: Volume 4:Issue 1(2015:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. GAPO syndrome in seven new patients: Identification of five novel ANTXR1 mutations including the first large intragenic deletion. Issue 2 (21st December 2018) Authors: Abdel‐Hamid, Mohamed S.; Ismail, Samira; Zaki, Maha S.; Abdel‐Salam, Ghada M. H.; Otaify, Ghada A.; Issa, Mahmoud Y.; Abdel‐Kader, Mohamed; Girgis, Marian; Aboul‐Ezz, Eman; Mazen, Inas; Aglan, Mona S.; Temtamy, Samia A. Journal: American journal of medical genetics Issue: Volume 179:Issue 2(2019) Page Start: 237 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation. Issue 6 (8th April 2020) Authors: Abdel‐Salam, Ghada M. H.; Sayed, Inas S. M.; Afifi, Hanan H.; Abdel‐Ghafar, Sherif F.; Abouzaid, Maha R.; Ismail, Samira I.; Aglan, Mona S.; Issa, Mahmoud Y.; EL‐Bassyouni, Hala T.; El‐Kamah, Ghada; Effat, Laila K.; Eid, Maha; Zaki, Maha S.; Temtamy, Samia A.; Abdel‐Hamid, Mohamed S. Journal: American journal of medical genetics Issue: Volume 182:Issue 6(2020) Page Start: 1407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mutational spectrum of COL1A1 and COL1A2 in Egyptian patients with autosomal dominant osteogenesis imperfecta with clinical severity score and genotype/phenotype correlation. Issue 1 (January 2015) Authors: Aglan, Mona S.; Abdel-Hamid, Mohamed S.; Otaify, Ghada A.; Ismail, Somaia M.; Effat, Laila K.; Temtamy, Samia A. Journal: Middle East journal of medical genetics Issue: Volume 4:Issue 1(2015:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Nager acrofacial dysostosis with a novel mutation in SF3B4 and developmental retardation in an Egyptian child. Issue 2 (July 2017) Authors: Ismail, Samira; Fayez, Alaaeldin; Otaify, Ghada A.; Sayed, Inas; El Ruby, Mona O.; Aglan, Mona S.; Temtamy, Samia A. Journal: Middle East journal of medical genetics Issue: Volume 6:Issue 2(2017:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Phenotypic and molecular insights into PQBP1‐related intellectual disability. Issue 11 (23rd September 2018) Authors: Abdel‐Salam, Ghada M. H.; Miyake, Noriko; Abdel‐Hamid, Mohamed S.; Sayed, Inas S. M.; Gadelhak, Mohamed I.; Ismail, Samira I.; Aglan, Mona S.; Afifi, Hanan H.; Temtamy, Samia A.; Matsumoto, Naomichi Journal: American journal of medical genetics Issue: Volume 176:Issue 11(2018) Page Start: 2446 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The scope of orodental genetics. Issue 2 (July 2017) Authors: ElHadidi, Sahar M.; Aboul-Ezz, Eman H.; ElBadry, Tarek H.; Temtamy, Samia A. Journal: Middle East journal of medical genetics Issue: Volume 6:Issue 2(2017:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Using Online Mendelian Inheritance in Man in low‐ and middle‐income countries. Issue 11 (7th September 2021) Authors: de Macena Sobreira, Nara Lygia; Repetto, Gabriela M.; Temtamy, Samia A.; Alvarez Perez, Ana Beatriz Other Names: Rasmussen Sonja A. guestEditor.; Hamosh Ada guestEditor. Journal: American journal of medical genetics Issue: Volume 185:Issue 11(2021) Page Start: 3284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗