1. A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature. Issue 5 (19th February 2020) Authors: Ding, Can; Beetz, Rolf; Rittner, Gabriele; Bartsch, Oliver Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 1032 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A recurrent TP63 mutation causing EEC3 and Rapp–Hodgkin syndromes. Issue 2 (April 2016) Authors: Brueggemann, Felix B.; Bartsch, Oliver Journal: Clinical dysmorphology Issue: Volume 25:Issue 2(2016:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in healthy tissue. Issue 2 (1st February 2016) Authors: Etzold, Anna; Galetzka, Danuta; Weis, Eva; Bartsch, Oliver; Haaf, Thomas; Spix, Claudia; Itzel, Timo; Schweiger, Susann; Strand, Dennis; Strand, Susanne; Zechner, Ulrich Journal: Epigenetics Issue: Volume 11:Issue 2(2016) Page Start: 120 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene. Issue 4 (July 2016) Authors: Vona, Barbara; Lechno, Stanislav; Hofrichter, Michaela A. H.; Hopf, Susanne; Läßig, Anne K.; Haaf, Thomas; Keilmann, Annerose; Zechner, Ulrich; Bartsch, Oliver Journal: Ear and hearing Issue: Volume 37:Issue 4(2016:Jul./Aug.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. Issue 3 (17th January 2018) Authors: Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A.; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; Bartsch, Oliver; Rossi, Massimiliano; Lenoir, Marion; Nugues, Frédérique; Mundlos, Stefan; Kornak, Uwe; Stanier, Philip; Sousa, Sérgio B.; Van Maldergem, Lionel Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 668 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De-novo Williams–Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation. Issue 3 (July 2017) Authors: Budisteanu, Magdalena; Papuc, Sorina M.; Tutulan-Cunita, Andreea C.; Budisteanu, Bogdan; Weis, Eva; Arghir, Aurora; Zechner, Ulrich; Bartsch, Oliver Journal: Clinical dysmorphology Issue: Volume 26:Issue 3(2017:Jul.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6. Issue 3 (14th June 2022) Authors: Gerber, Céline B.; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte; Hayes, Ian; Marin‐Reina, Purificacion; Mark, Paul R.; Martinez‐Castellano, Francisco; Maystadt, Isabelle; Karadurmus, Deniz; Steindl, Katharina; Wiesener, Antje; Zweier, Markus; Sticht, Heinrich; Zwe... Journal: Clinical genetics Issue: Volume 102:Issue 3(2022) Page Start: 182 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. (30th October 2014) Authors: Bülow, Luzie; Lissewski, Christina; Bressel, Rainer; Rauch, Anita; Stark, Zornitza; Zenker, Martin; Bartsch, Oliver Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 394 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. NDST1 missense mutations in autosomal recessive intellectual disability. Issue 11 (14th August 2014) Authors: Reuter, Miriam S.; Musante, Luciana; Hu, Hao; Diederich, Stefan; Sticht, Heinrich; Ekici, Arif B.; Uebe, Steffen; Wienker, Thomas F.; Bartsch, Oliver; Zechner, Ulrich; Oppitz, Cornelia; Keleman, Krystyna; Jamra, Rami Abou; Najmabadi, Hossein; Schweiger, Susann; Reis, André; Kahrizi, Kimia Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene. Issue 4 (22nd March 2017) Authors: Abdalla, Ebtesam; Bartsch, Oliver; Galetzka, Danuta; Zechner, Ulrich Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1090 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗