1. A Novel GNAS Duplication Associated With Loss‐of‐Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B). (28th November 2020) Authors: Reyes, Monica; Kagami, Masayo; Kawashima, Sayaka; Pallotta, Johanna; Schnabel, Dirk; Fukami, Maki; Jüppner, Harald Journal: Journal of bone and mineral research Issue: Volume 36:Number 3(2021) Page Start: 546 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A web-based survey assessing the impact of storage flexibility on the daily life of patients and caregivers administering growth hormone. (September 2015) Authors: Kappelgaard, Anne-Marie; Metzinger, Catherine P; Schnabel, Dirk Journal: Expert review of medical devices Issue: Volume 12:Number 5(2015) Page Start: 517 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cutting fluid behavior under consideration of chip formation during micro single-lip deep hole drilling of Inconel 718. (4th March 2023) Authors: Oezkaya, Ekrem; Baumann, Andreas; Michel, Sebastian; Schnabel, Dirk; Eberhard, Peter; Biermann, Dirk Journal: International journal of modelling & simulation Issue: Volume 43:Number 2(2023) Page Start: 49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies. (16th August 2021) Authors: Ferreira, Carlos R; Kintzinger, Kristina; Hackbarth, Mary E; Botschen, Ulrike; Nitschke, Yvonne; Mughal, M Zulf; Baujat, Genevieve; Schnabel, Dirk; Yuen, Eric; Gahl, William A; Gafni, Rachel I; Liu, Qing; Huertas, Pedro; Khursigara, Gus; Rutsch, Frank Journal: Journal of bone and mineral research Issue: Volume 36:Number 11(2021) Page Start: 2193 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials. Issue 12 (December 2020) Authors: Clément, Karine; van den Akker, Erica; Argente, Jesús; Bahm, Allison; Chung, Wendy K; Connors, Hillori; De Waele, Kathleen; Farooqi, I Sadaf; Gonneau-Lejeune, Julie; Gordon, Gregory; Kohlsdorf, Katja; Poitou, Christine; Puder, Lia; Swain, James; Stewart, Murray; Yuan, Guojun; Wabitsch, Martin; Kü... Journal: Lancet Issue: Volume 8:Issue 12(2020) Page Start: 960 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. Issue 2 (20th October 2006) Authors: Zenker, Martin; Lehmann, Katarina; Schulz, Anna Leana; Barth, Helmut; Hansmann, Dagmar; Koenig, Rainer; Korinthenberg, Rudolf; Kreiss-Nachtsheim, Martina; Meinecke, Peter; Morlot, Susanne; Mundlos, Stefan; Quante, Anne S; Raskin, Salmo; Schnabel, Dirk; Wehner, Lars-Erik; Kratz, Christian P; Horn,... Journal: Journal of medical genetics Issue: Volume 44:Issue 2(2007) Page Start: 131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts. Issue 5 (May 2016) Authors: Mayr, Bernhard; Schnabel, Dirk; Dörr, Helmuth-Günther; Schöfl, Christof Journal: European journal of endocrinology Issue: Volume 174:Issue 5(2016) Page Start: R189 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. Issue 5 (November 2016) Authors: Glaudo, Markus; Letz, Saskia; Quinkler, Marcus; Bogner, Ulrich; Elbelt, Ulf; Strasburger, Christian J; Schnabel, Dirk; Lankes, Erwin; Scheel, Sandra; Feldkamp, Joachim; Haag, Christine; Schulze, Egbert; Frank-Raue, Karin; Raue, Friedhelm; Mayr, Bernhard; Schöfl, Christof Journal: European journal of endocrinology Issue: Volume 175:Issue 5(2016) Page Start: 421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Introduction of an Adaptive Smoothed Particles Hydrodynamics Formulation. Issue 1 (December 2014) Authors: Schnabel, Dirk; Müller, Alexandra; Eberhard, Peter Journal: Proceedings in applied mathematics and mechanics Issue: Volume 14:Issue 1(2014) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description. (September 2022) Authors: Brandi, Maria Luisa; Ariceta, Gema; Beck-Nielsen, Signe Sparre; Boot, Annemieke M.; Briot, Karine; de Lucas Collantes, Carmen; Emma, Francesco; Giannini, Sandro; Haffner, Dieter; Keen, Richard; Levtchenko, Elena; Mӓkitie, Outi; Nilsson, Ola; Schnabel, Dirk; Tripto-Shkolnik, Liana; Zillikens, M. C... Journal: Therapeutic advances in chronic disease Issue: Volume 13(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗