1. Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain. Issue 4 (2nd January 2023) Authors: Averdunk, Luisa; Al‐Thihli, Khalid; Surowy, Harald; Lüdecke, Hermann‐Josef; Drechsler, Matthias; Yigit, Gökhan; Smorag, Lukasz; Al Hallak, Bassam; Li, Yun; Altmüller, Janine; Guthoff, Tanja; Wallot, Michael; Nürnberg, Peter; Wollnik, Bernd; Jamra, Rami Abou; Al‐Maawali, Almundher; Wieczorek, Dagmar Journal: Clinical genetics Issue: Volume 103:Issue 4(2023) Page Start: 484 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. NDST1 missense mutations in autosomal recessive intellectual disability. Issue 11 (14th August 2014) Authors: Reuter, Miriam S.; Musante, Luciana; Hu, Hao; Diederich, Stefan; Sticht, Heinrich; Ekici, Arif B.; Uebe, Steffen; Wienker, Thomas F.; Bartsch, Oliver; Zechner, Ulrich; Oppitz, Cornelia; Keleman, Krystyna; Jamra, Rami Abou; Najmabadi, Hossein; Schweiger, Susann; Reis, André; Kahrizi, Kimia Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum. Issue 1 (10th November 2020) Authors: Föhrenbach, Melanie; Jamra, Rami Abou; Borkhardt, Arndt; Brozou, Triantafyllia; Muschke, Petra; Popp, Bernt; Rey, Linda K.; Schaper, Jörg; Surowy, Harald; Zenker, Martin; Zweier, Christiane; Wieczorek, Dagmar; Redler, Silke Journal: Clinical genetics Issue: Volume 99:Issue 1(2021) Page Start: 199 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗