1. A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion. Issue 5 (11th August 2021) Authors: Musa, Noha; Elmonem, Mohamed A.; Beetz, Christian; Hafez, Mona; Hassan, Mona; Rolfs, Arndt; Selim, Laila; Elkhateeb, Nour Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 641 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. Issue 9 (24th June 2020) Authors: Elsea, Sarah H.; Solyom, Alexander; Martin, Kirt; Harmatz, Paul; Mitchell, John; Lampe, Christina; Grant, Christina; Selim, Laila; Mungan, Neslihan Oneli; Guelbert, Norberto; Magnusson, Bo; Sundberg, Erik; Puri, Ratna; Kapoor, Seema; Arslan, Nur; DiRocco, Maja; Zaki, Maha; Ozen, Seza; Mahmoud, Im... Journal: Human mutation Issue: Volume 41:Issue 9(2020) Page Start: 1469 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group. Issue 1 (December 2015) Authors: Al Jasmi, Fatma; Al Jumah, Mohammed; Alqarni, Fatimah; Al-Sanna'a, Nouriya; Al-Sharif, Fawziah; Bohlega, Saeed; Cupler, Edward; Fathalla, Waseem; Hamdan, Mohamed; Makhseed, Nawal; Nafissi, Shahriar; Nilipour, Yalda; Selim, Laila; Shembesh, Nuri; Sunbul, Rawda; Tonekaboni, Seyed Journal: BMC neurology Issue: Volume 15:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Molybdenum cofactor and isolated sulphite oxidase deficiencies: Clinical and molecular spectrum among Egyptian patients. (June 2017) Authors: Girgis, Marian Y.; Zaki, Maha S.; Selim, Laila; Mahmoud, Iman; Gleeson, Joseph G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive. Issue 1 (1st June 2016) Authors: Zaki, Maha S.; Bhat, Gifty; Sultan, Tipu; Issa, Mahmoud; Jung, Hea‐Jin; Dikoglu, Esra; Selim, Laila; G. Mahmoud, Imam; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada; Marin‐Valencia, Isaac; Gleeson, Joseph G. Journal: Annals of neurology Issue: Volume 80:Issue 1(2016:Jul.) Page Start: 59 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. Issue 4 (5th October 2019) Authors: Ghosh, Shereen Georges; Wang, Lu; Breuss, Martin W; Green, Joshua D; Stanley, Valentina; Yang, Xiaoxu; Ross, Danica; Traynor, Bryan J; Alhashem, Amal M; Azam, Matloob; Selim, Laila; Bastaki, Laila; Elbastawisy, Hanan I; Temtamy, Samia; Zaki, Maha; Gleeson, Joseph G Journal: Journal of medical genetics Issue: Volume 57:Issue 4(2020) Page Start: 274 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗