1. An unusual presentation of incontinentia pigmenti. (25th December 2019) Authors: Sigl, Jannina; Vodopiutz, Julia; Tanew, Adrian; Radakovic, Sonja Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 18:Number 2(2020) Page Start: 133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chondroitin Sulfate N‐acetylgalactosaminyltransferase‐1 (CSGalNAcT‐1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. Issue 1 (22nd September 2016) Authors: Vodopiutz, Julia; Mizumoto, Shuji; Lausch, Ekkehart; Rossi, Antonio; Unger, Sheila; Janocha, Nikolaus; Costantini, Rossella; Seidl, Rainer; Greber‐Platzer, Susanne; Yamada, Shuhei; Müller, Thomas; Jilma, Bernd; Ganger, Rudolf; Superti‐Furga, Andrea; Ikegawa, Shiro; Sugahara, Kazuyuki; Janecke, An... Journal: Human mutation Issue: Volume 38:Issue 1(2017) Page Start: 34 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C. Issue 8 (20th May 2015) Authors: Müller, Thomas; Rasool, Insha; Heinz-Erian, Peter; Mildenberger, Eva; Hülstrunk, Christian; Müller, Andreas; Michaud, Laurent; Koot, Bart G P; Ballauff, Antje; Vodopiutz, Julia; Rosipal, Stefan; Petersen, Britt-Sabina; Franke, Andre; Fuchs, Irene; Witt, Heiko; Zoller, Heinz; Janecke, Andreas R; V... Journal: Gut Issue: Volume 65:Issue 8(2016) Page Start: 1306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Issue 3 (3rd December 2019) Authors: Mizumoto, Shuji; Janecke, Andreas R.; Sadeghpour, Azita; Povysil, Gundula; McDonald, Marie T.; Unger, Sheila; Greber‐Platzer, Susanne; Deak, Kristen L.; Katsanis, Nicholas; Superti‐Furga, Andrea; Sugahara, Kazuyuki; Davis, Erica E.; Yamada, Shuhei; Vodopiutz, Julia Journal: Human mutation Issue: Volume 41:Issue 3(2020) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Ein ungewöhnlicher Verlauf von Incontinentia pigmenti. (6th February 2020) Authors: Sigl, Jannina; Vodopiutz, Julia; Tanew, Adrian; Radakovic, Sonja Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 18:Number 2(2020) Page Start: 133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics. Issue 1 (2nd December 2014) Authors: Braunholz, Diana; Obieglo, Carolin; Parenti, Ilaria; Pozojevic, Jelena; Eckhold, Juliane; Reiz, Benedikt; Brænne, Ingrid; Wendt, Kerstin S.; Watrin, Erwan; Vodopiutz, Julia; Rieder, Harald; Gillessen‐Kaesbach, Gabriele; Kaiser, Frank J. Journal: Human mutation Issue: Volume 36:Issue 1(2015:Jan.) Page Start: 26 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hidden Mutations in Cornelia de Lange Syndrome Limitations of Sanger Sequencing in Molecular Diagnostics. Issue 2 (February 2015) Authors: Braunholz, Diana; Obieglo, Carolin; Parenti, Ilaria; Pozojevic, Jelena; Eckhold, Juliane; Reiz, Benedikt; Brænne, Ingrid; Wendt, Kerstin S.; Watrin, Erwan; Vodopiutz, Julia; Rieder, Harald; Gillessen‐Kaesbach, Gabriele; Kaiser, Frank J. Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 279 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria. Issue 3 (7th July 2020) Authors: Waich, Stephanie; Janecke, Andreas R.; Parson, Walther; Greber‐Platzer, Susanne; Müller, Thomas; Huber, Lukas A.; Valovka, Taras; Vodopiutz, Julia Journal: Clinical genetics Issue: Volume 98:Issue 3(2020) Page Start: 282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series. Issue 1 (January 2019) Authors: Waich, Stephanie; Roscher, Anne; Brunner-Krainz, Michaela; Cortina, Gerard; Köstl, Gerhard; Feichtinger, Rene G.; Entenmann, Andreas; Müller, Thomas; Knisely, A.S.; Mayr, Johannes A.; Janecke, Andreas R.; Vodopiutz, Julia Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 68:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Synonymous mutation in adenosine triphosphatase copper‐transporting beta causes enhanced exon skipping in Wilson disease. Issue 7 (10th March 2022) Authors: Panzer, Marlene; Viveiros, André; Schaefer, Benedikt; Baumgartner, Nadja; Seppi, Klaus; Djamshidian, Atbin; Todorov, Theodor; Griffiths, William J. H.; Schott, Eckart; Schuelke, Markus; Eurich, Dennis; Stättermayer, Albert Friedrich; Bomford, Adrian; Foskett, Pierre; Vodopiutz, Julia; Stauber, Ru... Journal: Hepatology communications Issue: Volume 6:Issue 7(2022) Page Start: 1611 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗