1. A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. Issue 2 (20th November 2018) Authors: Tejada, María‐Isabel; Elcoroaristizabal, Xabier; Ibarluzea, Nekane; Botella, María‐Pilar; de la Hoz, Ana‐Belén; Ocio, Intzane Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 339 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes. Issue 1 (22nd October 2022) Authors: Maia, Nuno; Ibarluzea, Nekane; Misra‐Isrie, Mala; Koboldt, Daniel C.; Marques, Isabel; Soares, Gabriela; Santos, Rosário; Marcelis, Carlo L. M.; Keski‐Filppula, Riikka; Guitart, Miriam; Gabau Vila, Elisabeth; Lehman, April; Hickey, Scott; Mori, Mari; Terhal, Paulien; Valenzuela, Irene; Lasa‐Aranz... Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Non‐syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies. Issue 5 (9th January 2020) Authors: Tejada, María Isabel; Ibarluzea, Nekane Journal: Clinical genetics Issue: Volume 97:Issue 5(2020) Page Start: 677 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗