1. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Issue 5 (21st February 2019) Authors: Yüksel, Zafer; Vogel, Florian; Alhashem, Amal M.; Alanzi, Talal S.A.; Tabarki, Brahim; Kampe, Kapil; Kandaswamy, Krishna K.; Werber, Martin; Bertoli‐Avella, Aida M.; Beetz, Christian; Rolfs, Arndt; Bauer, Peter Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities. Issue 2 (6th November 2021) Authors: Alawbathani, Salem; Westenberger, Ana; Ordonez‐Herrera, Natalia; Al‐Hilali, Mariam; Al Hebby, Homoud; Alabbas, Fahad; Alhashem, Amal M.; Elyamany, Ghaleb; Megarbane, André; Kose, Melis; Alhashmi, Nadia; Al Sukaiti, Nashat; Al‐Raqad, Mohammed; Al‐Tawalbeh, Samah; Abu Adas Blanco, Omar; Alkhattabi,... Journal: Clinical genetics Issue: Volume 101:Issue 2(2022) Page Start: 247 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Crisponi/CISS1 syndrome: A case series. Issue 5 (24th January 2016) Authors: Alhashem, Amal M.; Majeed–Saidan, Muhammad Ali; Ammari, Amer N.; Alrakaf, Maha S.; Nojoom, Maha; Maddirevula, Sateesh; Faqeih, Eissa; Alkuraya, Fowzan S.; Garne, Ester; Kurdi, Ahmad M. Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings. Issue 8 (8th May 2021) Authors: Mushiba, Aziza M.; FAQEIH, EISSA; Saleh, Mohammed A.; Ramzan, Khushnooda; Imtiaz, Faiqa; Al‐Owain, Mohammed; Alhashem, Amal M.; Alswaid, Abdulrahman Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2455 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗