1. A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis. (9th September 2016) Authors: Rolvien, Tim; Koehne, Till; Kornak, Uwe; Lehmann, Wolfgang; Amling, Michael; Schinke, Thorsten; Oheim, Ralf Journal: Journal of bone and mineral research Issue: Volume 32:Number 2(2017:Feb.) Page Start: 277 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation in CDH11, encoding cadherin‐11, cause Branchioskeletogenital (Elsahy‐Waters) syndrome. Issue 9 (8th September 2018) Authors: Castori, Marco; Ott, Claus‐Eric; Bisceglia, Luigi; Leone, Maria Pia; Mazza, Tommaso; Castellana, Stefano; Tomassi, Jurgen; Lanciotti, Silvia; Mundlos, Stefan; Hennekam, Raoul C.; Kornak, Uwe; Brancati, Francesco Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 2028 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. AB0086 BCP AND CPPD CRYSTALS INFLUENCE THE CHONDROCYTE PHENOTYPE IN DIFFERENT WAYS. (June 2019) Authors: Kornak, Uwe; Meyer, Franziska; Bollmann, Miriam; Bertrand, Jessica Journal: Annals of the rheumatic diseases Issue: Volume 78(2019)Supplement 2 Page Start: 1506 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. Issue 4 (22nd January 2016) Authors: Mackenroth, Luisa; Fischer‐Zirnsak, Björn; Egerer, Johannes; Hecht, Jochen; Kallinich, Tilmann; Stenzel, Werner; Spors, Birgit; von Moers, Arpad; Mundlos, Stefan; Kornak, Uwe; Gerhold, Kerstin; Horn, Denise Journal: American journal of medical genetics Issue: Volume 170:Issue 4(2016) Page Start: 1080 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Arterial tortuosity syndrome: 40 new families and literature review. (October 2018) Authors: Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; ... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers‐Danlos syndrome by its dermatological manifestations: Report of three affected patients. Issue 5 (29th January 2014) Authors: Greally, Marie T.; Kalis, Neale N.; Agab, Wahid; Ardati, Kasim; Giurgea, Sanda; Kornak, Uwe; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 164:Issue 5(2014.) Page Start: 1245 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Issue 9 (25th July 2017) Authors: Horn, Denise; Siebert, Eberhard; Seidel, Ulrich; Rost, Imma; Mayer, Karin; Abou Jamra, Rami; Mitter, Diana; Kornak, Uwe Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2534 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Issue 7 (18th June 2021) Authors: Vogt, Guido; Verheyen, Sarah; Schwartzmann, Sarina; Ehmke, Nadja; Potratz, Cornelia; Schwerin-Nagel, Anette; Plecko, Barbara; Holtgrewe, Manuel; Seelow, Dominik; Blatterer, Jasmin; Speicher, Michael R; Kornak, Uwe; Horn, Denise; Mundlos, Stefan; Fischer-Zirnsak, Björn; Boschann, Felix Journal: Journal of medical genetics Issue: Volume 59:Issue 7(2022) Page Start: 662 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. CLCN7 and TCIRG1 Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals. (April 2014) Authors: Barvencik, Florian; Kurth, Ingo; Koehne, Till; Stauber, Tobias; Zustin, Jozef; Tsiakas, Konstantinos; Ludwig, Carmen F; Beil, F Timo; Pestka, Jan M; Hahn, Michael; Santer, Rene; Supanchart, Chayarop; Kornak, Uwe; Fattore, Andrea Del; Jentsch, Thomas J; Teti, Anna; Schulz, Ansgar; Schinke, Thorste... Journal: Journal of bone and mineral research Issue: Volume 29:Number 4(2014:Apr.) Page Start: 982 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical Phenotype and Relevance of LRP5 and LRP6 Variants in Patients With Early‐Onset Osteoporosis (EOOP). (12th November 2020) Authors: Stürznickel, Julian; Rolvien, Tim; Delsmann, Alena; Butscheidt, Sebastian; Barvencik, Florian; Mundlos, Stefan; Schinke, Thorsten; Kornak, Uwe; Amling, Michael; Oheim, Ralf Journal: Journal of bone and mineral research Issue: Volume 36:Number 2(2021) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗