1. A common microdeletion affecting a hippocampus‐ and amygdala‐specific isoform of tryptophan hydroxylase 2 is not associated with affective disorders. (23rd April 2014) Authors: Hammer, Christian; Degenhardt, Franziska; Priebe, Lutz; Stütz, Adrian M; Heilmann, Stefanie; Waszak, Sebastian M; Schlattl, Andreas; Mangold, Elisabeth; Hoffmann, Per; MooDS Consortium; Nöthen, Markus M; Rietschel, Marcella; Rappold, Gudrun; Korbel, Jan; Cichon, Sven; Niesler, Beate Journal: Bipolar disorders Issue: Volume 16:Number 7(2014) Page Start: 764 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. (December 2017) Authors: Rafiullah, Rafiullah; Long, Alyssa; Ivanova, Anna; Ali, Hazrat; Berkel, Simone; Mustafa, Ghulam; Paramasivam, Nagarajan; Schlesner, Matthias; Wiemann, Stefan; Wade, Rebecca; Bolthauser, Eugen; Blum, Martin; Kahn, Richard; Caspary, Tamara; Rappold, Gudrun Journal: European journal of human genetics Issue: Volume 25:Number 12(2017) Page Start: 1324 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts. Issue 11 (23rd September 2014) Authors: Ek, Weronica E; Reznichenko, Anna; Ripke, Stephan; Niesler, Beate; Zucchelli, Marco; Rivera, Natalia V; Schmidt, Peter T; Pedersen, Nancy L; Magnusson, Patrik; Talley, Nicholas J; Holliday, Elizabeth G; Houghton, Lesley; Gazouli, Maria; Karamanolis, George; Rappold, Gudrun; Burwinkel, Barbara; Su... Journal: Gut Issue: Volume 64:Issue 11(2015) Page Start: 1774 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. Issue 5 (20th December 2006) Authors: Rappold, Gudrun; Blum, Werner F; Shavrikova, Elena P; Crowe, Brenda J; Roeth, Ralph; Quigley, Charmian A; Ross, Judith L; Niesler, Beate Journal: Journal of medical genetics Issue: Volume 44:Issue 5(2007) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. MiR-16 and miR-103 impact 5-HT4 receptor signalling and correlate with symptom profile in irritable bowel syndrome. Issue 1 (December 2017) Authors: Wohlfarth, Carolin; Schmitteckert, Stefanie; Härtle, Janina; Houghton, Lesley; Dweep, Harsh; Fortea, Marina; Assadi, Ghazaleh; Braun, Alexander; Mederer, Tanja; Pöhner, Sarina; Becker, Philip; Fischer, Christine; Granzow, Martin; Mönnikes, Hubert; Mayer, Emeran; Sayuk, Gregory; Boeckxstaens, Guy;... Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. MiR-16 and miR-125b are involved in barrier function dysregulation through the modulation of claudin-2 and cingulin expression in the jejunum in IBS with diarrhoea. Issue 9 (12th January 2017) Authors: Martínez, Cristina; Rodiño-Janeiro, Bruno K; Lobo, Beatriz; Stanifer, Megan L; Klaus, Bernd; Granzow, Martin; González-Castro, Ana M; Salvo-Romero, Eloisa; Alonso-Cotoner, Carmen; Pigrau, Marc; Roeth, Ralph; Rappold, Gudrun; Huber, Wolfgang; González-Silos, Rosa; Lorenzo, Justo; de Torres, Inés; ... Journal: Gut Issue: Volume 66:Issue 9(2017) Page Start: 1537 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Phenotypic spectrum associated with CASK loss-of-function mutations. Issue 11 (27th September 2011) Authors: Moog, Ute; Kutsche, Kerstin; Kortüm, Fanny; Chilian, Bettina; Bierhals, Tatjana; Apeshiotis, Neophytos; Balg, Stefanie; Chassaing, Nicolas; Coubes, Christine; Das, Soma; Engels, Hartmut; Van Esch, Hilde; Grasshoff, Ute; Heise, Marisol; Isidor, Bertrand; Jarvis, Joanna; Koehler, Udo; Martin, Thoma... Journal: Journal of medical genetics Issue: Volume 48:Issue 11(2011) Page Start: 741 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Serotonin type 3 receptor genes: HTR3A, B, C, D, E. (May 2008) Authors: Niesler, Beate; Kapeller, Johannes; Hammer, Christian; Rappold, Gudrun Journal: Pharmacogenomics Issue: Volume 9:Number 5(2008) Page Start: 501 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Short stature in a girl with partial monosomy of the pseudoautosomal region distal to DXYS15: further evidence for the assignment of the critical region for a pseudoautosomal growth gene(s). Issue 10 (October 1995) Authors: Ogata, Tsutomu; Yoshizawa, Atsuko; Muroya, Koji; Matsuo, Nobutake; Fukushima, Yoshimitsu; Rappold, Gudrun; Yokoya, Susumu Journal: Journal of medical genetics Issue: Volume 32:Issue 10(1995) Page Start: 831 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The Human Serotonin Type 3 Receptor Gene (HTR3A‐E) Allelic Variant Database. Issue 2 (9th November 2016) Authors: Celli, Jacopo; Rappold, Gudrun; Niesler, Beate Journal: Human mutation Issue: Volume 38:Issue 2(2017) Page Start: 137 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗