1. [OP.LB01.12] CACNA1H MUTATIONS ARE ASSOCIATED WITH YOUNG ONSET AND FAMILIAL FORMS OF PRIMARY ALDOSTERONISM. (September 2016) Authors: Daniil, G.; Fernandes-Rosa, F.L.; Chemin, J.; Jeunemaitre, X.; Polak, M.; Boulkroun, S.; Amar, L.; Strom, T.M.; Lory, P.; Zennaro, M.C. Journal: Journal of hypertension Issue: Volume 34:(2016) Supplement 2 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnostic exome sequencing in early‐onset Parkinson's disease confirms VPS13C as a rare cause of autosomal‐recessive Parkinson's disease. Issue 3 (24th January 2018) Authors: Schormair, B.; Kemlink, D.; Mollenhauer, B.; Fiala, O.; Machetanz, G.; Roth, J.; Berutti, R.; Strom, T.M.; Haslinger, B.; Trenkwalder, C.; Zahorakova, D.; Martasek, P.; Ruzicka, E.; Winkelmann, J. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 603 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DYT16 mimics metabolic disease with fever associated beginning of dystonia and MRI abnormalities. (June 2017) Authors: Kölbel, H.; Kuechler, A.; Strom, T.M.; Lüdecke, H.-J.; Möller-Hartmann, C.; Della-Marina, A.; Wieczoreck, D.; Schara, U. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the clinical spectrum of the 'HDAC8‐phenotype' – implications for molecular diagnostics, counseling and risk prediction. Issue 5 (25th January 2016) Authors: Parenti, I.; Gervasini, C.; Pozojevic, J.; Wendt, K.S.; Watrin, E.; Azzollini, J.; Braunholz, D.; Buiting, K.; Cereda, A.; Engels, H.; Garavelli, L.; Glazar, R.; Graffmann, B.; Larizza, L.; Lüdecke, H.J.; Mariani, M.; Masciadri, M.; Pié, J.; Ramos, F.J.; Russo, S. Journal: Clinical genetics Issue: Volume 89:Issue 5(2016) Page Start: 564 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration. Issue 5 (21st September 2017) Authors: Bublitz, S.K.; Alhaddad, B.; Synofzik, M.; Kuhl, V.; Lindner, A.; Freiberg, C.; Schmidt, H.; Strom, T.M.; Haack, T.B.; Deschauer, M. Journal: Clinical genetics Issue: Volume 92:Issue 5(2017) Page Start: 561 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Issue 2 (8th November 2017) Authors: Braunisch, M.C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski‐Feder, E.; Van Maldergem, L.; Lammens, M.; Kovács‐Nagy, R.; Alhaddad, B.; Strom, T.M.; Meitinger, T.; Senderek, J.; Rudnik‐Schöneborn, S.; Haack, T.B. Journal: Clinical genetics Issue: Volume 93:Issue 2(2018) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. (26th January 2014) Authors: Baquero‐Montoya, C.; Gil‐Rodríguez, M.C.; Braunholz, D.; Teresa‐Rodrigo, M.E.; Obieglo, C.; Gener, B.; Schwarzmayr, T.; Strom, T.M.; Gómez‐Puertas, P.; Puisac, B.; Gillessen‐Kaesbach, G.; Musio, A.; Ramos, F.J.; Kaiser, F.J.; Pié, J. Journal: Clinical genetics Issue: Volume 86:Number 6(2014:Dec.) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗