1. 47 patients with FLNA associated periventricular nodular heterotopia. Issue 1 (December 2015) Authors: Lange, Max; Kasper, Burkhard; Bohring, Axel; Rutsch, Frank; Kluger, Gerhard; Hoffjan, Sabine; Spranger, Stephanie; Behnecke, Anne; Ferbert, Andreas; Hahn, Andreas; Oehl-Jaschkowitz, Barbara; Graul-Neumann, Luitgard; Diepold, Katharina; Schreyer, Isolde; Bernhard, Matthias; Mueller, Franziska; Sie... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Issue 8 (13th April 2016) Authors: Beunders, Gea; van de Kamp, Jiddeke; Vasudevan, Pradeep; Morton, Jenny; Smets, Katrien; Kleefstra, Tjitske; de Munnik, Sonja A; Schuurs-Hoeijmakers, Janneke; Ceulemans, Berten; Zollino, Marcella; Hoffjan, Sabine; Wieczorek, Stefan; So, Joyce; Mercer, Leanne; Walker, Tanya; Velsher, Lea; Parker, M... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Acute demyelination in children: predicting pediatric multiple sclerosis manifestation. (September 2011) Authors: Hoffjan, Sabine; Epplen, Jörg T Journal: Future neurology Issue: Volume 6:Number 5(2011) Page Start: 583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Acute demyelination in children: predicting pediatric multiple sclerosis manifestation. (September 2011) Authors: Hoffjan, Sabine; Epplen, Jörg T Journal: Future neurology Issue: Volume 6:Number 5(2011) Page Start: 583 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy. Issue 4 (21st December 2018) Authors: Kropatsch, Regina; Schmidt, Helena M.; Buttkereit, Pia; Epplen, Jörg T.; Hoffjan, Sabine Journal: Muscle & nerve Issue: Volume 59:Issue 4(2019) Page Start: 484 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects. Issue 9 (11th September 2012) Authors: Lill, Christina M; Liu, Tian; Schjeide, Brit-Maren M; Roehr, Johannes T; Akkad, Denis A; Damotte, Vincent; Alcina, Antonio; Ortiz, Miguel A; Arroyo, Rafa; Lopez de Lapuente, Aitzkoa; Blaschke, Paul; Winkelmann, Alexander; Gerdes, Lisa-Ann; Luessi, Felix; Fernadez, Oscar; Izquierdo, Guillermo; Ant... Other Names: contributor. Journal: Journal of medical genetics Issue: Volume 49:Issue 9(2012) Page Start: 558 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Issue 3 (9th September 2021) Authors: Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarr... Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Dissecting the genetic background of multifactorial diseases and traits – A major challenge for genetic research. Issue 6 (December 2016) Authors: Hoffjan, Sabine Journal: Molecular and cellular probes Issue: Volume 30:Issue 6(2016) Page Start: 345 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. Issue 5 (October 2015) Authors: Köhler, Cornelia; Heyer, Christoph; Hoffjan, Sabine; Stemmler, Susanne; Lücke, Thomas; Thiels, Charlotte; Kohlschütter, Alfried; Löbel, Ulrike; Horvath, Rita; Kleinle, Stephanie; Benet-Pages, Anna; Abicht, Angela Journal: Molecular and cellular probes Issue: Volume 29:Issue 5(2015) Page Start: 319 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement. (22nd November 2016) Authors: Unger, Andreas; Dekomien, Gabriele; Güttsches, Anne; Dreps, Thomas; Kley, Rudolf; Tegenthoff, Martin; Ferbert, Andreas; Weis, Joachim; Heyer, Christoph; Linke, Wolfgang A.; Martinez-Carrera, Lilian; Storbeck, Markus; Wirth, Brunhilde; Hoffjan, Sabine; Vorgerd, Matthias Journal: Neurology Issue: Volume 87:Number 21(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗