1. A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene. Issue 10 (24th December 2021) Authors: Bertoli-Avella, Aida; Hotakainen, Ronja; Al Shehhi, Maryam; Urzi, Alice; Pareira, Catarina; Marais, Anett; Al Shidhani, Khoula; Aloraimi, Sumaya; Morales-Torres, Galina; Fisher, Steffen; Demuth, Laura; Moteleb Selim, Laila Abdel; Al Menabawy, Nihal; Busehail, Maryam; AlShaikh, Mohammed; Gilani, N... Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 993 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene. Issue 2 (9th November 2020) Authors: Tripolszki, Kornelia; Sasaki, Erina; Hotakainen, Ronja; Kassim, Abdul Halim; Pereira, Catarina; Rolfs, Arndt; Bauer, Peter; Reardon, William; Bertoli‐Avella, Aida M. Journal: Clinical genetics Issue: Volume 99:Issue 2(2021) Page Start: 303 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗