1. A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset. (June 2014) Authors: Hoyer‐Kuhn, Heike; Semler, Oliver; Garbes, Lutz; Zimmermann, Katharina; Becker, Jutta; Wollnik, Bernd; Schoenau, Eckhard; Netzer, Christian Journal: Journal of bone and mineral research Issue: Volume 29:Number 6(2014:Jun.) Page Start: 1387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Author response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA. (21st July 2020) Authors: Kirschner, Janbernd; Becker, Jutta; Schorling, David; Pechmann, Astrid; Wirth, Brunhilde Journal: Neurology Issue: Volume 95:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CRTAP variants in early‐onset osteoporosis and recurrent fractures. Issue 3 (30th November 2016) Authors: Costantini, Alice; Vuorimies, Ilkka; Mäkitie, Riikka; Mäyränpää, Mervi K.; Becker, Jutta; Pekkinen, Minna; Valta, Helena; Netzer, Christian; Kämpe, Anders; Taylan, Fulya; Jiao, Hong; Mäkitie, Outi Journal: American journal of medical genetics Issue: Volume 173:Issue 3(2017) Page Start: 806 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Discrepancy in redetermination of SMN2 copy numbers in children with SMA. (6th August 2019) Authors: Schorling, David Christof; Becker, Jutta; Pechmann, Astrid; Langer, Thorsten; Wirth, Brunhilde; Kirschner, Janbernd Journal: Neurology Issue: Volume 93:Number 6(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X‐Linked Kabuki Syndrome Subtype 2. Issue 9 (7th July 2016) Authors: Bögershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Hülya; Becker, Jutta; Thoenes, Michaela; Simsek‐Kiper, Pelin Özlem; Barat‐Houari, Mouna; Elcioglu, Nursel H.; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M.; Fabre, Aurélie; Baynam, Gareth; Sanchez, Elodie;... Journal: Human mutation Issue: Volume 37:Issue 9(2016) Page Start: 847 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗