1. ASAH1‐related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype. Issue 6 (2nd September 2020) Authors: Mahmoud, Iman G.; Elmonem, Mohamed A.; Zaki, Maha S.; Ramadan, Areef; Al‐Menabawy, Nihal M.; El‐Gamal, Aya; Mansour, Lobna; Issa, Mahmoud Y.; Abdel‐Hamid, Mohamed S.; Abdel‐Hady, Sawsan; Khalifa, Iman; Ibrahim, Ahmed; Solyom, Alexander; Rolfs, Arndt; Selim, Laila Journal: Clinical genetics Issue: Volume 98:Issue 6(2020) Page Start: 598 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum. Issue 12 (19th September 2020) Authors: Zaki, Maha S.; Otaify, Ghada A.; Ismail, Samira; Issa, Mahmoud Y.; El‐Ruby, Mona O.; Sadek, Abdelrahim A.; Ashaat, Engy A.; El Saeidi, Sonia A.; Aglan, Mona S.; Temtamy, Samia; Abdel‐Hamid, Mohamed S. Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 2857 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency. Issue 3 (12th January 2022) Authors: Scala, Marcello; Wortmann, Saskia B.; Kaya, Namik; Stellingwerff, Menno D.; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D.; Skrypnyk, Cristina; Iwanicka‐Pronicka, Katarzyna; Piekutowska‐Abramczuk, Dorota; Ciara, Elżbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Par... Journal: Human mutation Issue: Volume 43:Issue 3(2022) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. Issue 8 (21st June 2013) Authors: Abdel‐Salam, Ghada M.H.; Abdel‐Hamid, Mohamed S.; Hassan, Nihal A.; Issa, Mahmoud Y.; Effat, Laila; Ismail, Samira; Aglan, Mona S.; Zaki, Maha S. Journal: American journal of medical genetics Issue: Volume 161:Issue 8(2013:Aug.) Page Start: 1875 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Loss of Protocadherin‐12 Leads to Diencephalic‐Mesencephalic Junction Dysplasia Syndrome. Issue 5 (4th October 2018) Authors: Guemez‐Gamboa, Alicia; Çağlayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy‐Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Iss... Journal: Annals of neurology Issue: Volume 84:Issue 5(2018) Page Start: 638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. Issue 5 (20th October 2020) Authors: Abdel‐Hamid, Mohamed S.; Abdel‐Ghafar, Sherif F.; Ismail, Suzan R.; Desouky, Lubna M.; Issa, Mahmoud Y.; Effat, Laila K.; Zaki, Maha S. Journal: Clinical genetics Issue: Volume 98:Issue 5(2020) Page Start: 445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. (September 2016) Authors: Zaki, Maha S.; Selim, Laila; EL-Bassyouni, Hala T.; Issa, Mahmoud Y.; Mahmoud, Iman; Ismail, Samira; Girgis, Mariane; Sadek, Abdelrahim A.; Gleeson, Joseph G.; Abdel Hamid, Mohamed S. Journal: European journal of paediatric neurology Issue: Volume 20:Number 5(2016:Sep.) Page Start: 714 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant. Issue 12 (10th September 2020) Authors: El‐Dessouky, Sara H.; Issa, Mahmoud Y.; Aboulghar, Mona M.; Gaafar, Hassan M.; Elarab, Ahmed Ezz; Ateya, Mohamed I.; Omar, Heba H.; Beetz, Christian; Zaki, Maha Saad Journal: American journal of medical genetics Issue: Volume 182:Issue 12(2020) Page Start: 2867 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗