1. A spoonful of L‐fucose—an efficient therapy for GFUS‐CDG, a new glycosylation disorder. Issue 9 (1st September 2021) Authors: Feichtinger, René G; Hüllen, Andreas; Koller, Andreas; Kotzot, Dieter; Grote, Valerian; Rapp, Erdmann; Hofbauer, Peter; Brugger, Karin; Thiel, Christian; Mayr, Johannes A; Wortmann, Saskia B Journal: EMBO molecular medicine Issue: Volume 13:Issue 9(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chromosomal rearrangements in patients with clinical features of Silver–Russell syndrome. Issue 6 (24th March 2014) Authors: Fokstuen, Siv; Kotzot, Dieter Journal: American journal of medical genetics Issue: Volume 164:Issue 6(2014.) Page Start: 1595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements. Issue 8 (1st August 2001) Authors: Kotzot, Dieter Journal: Journal of medical genetics Issue: Volume 38:Issue 8(2001) Page Start: 497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Contamination of Amniotic Fluid With Maternal Balanced t(11;22) Translocation Cells. Issue 5 (26th February 2013) Authors: Fokstuen, Siv; Binkert, Franz; Munoz, Analia; Erb, Niklaus; Dürig, Peter; Altermatt, Hans Jörg; Blouin, Jean‐Louis; Kotzot, Dieter Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Issue 8 (18th May 2021) Authors: Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs‐Hoeijmakers, Janneke; Boon, Elles M. J.; van Hagen, Johanna M.; Zwijnenburg, Petra; Weiss, Marjan M.; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G.; Kotzot... Journal: American journal of medical genetics Issue: Volume 185:Issue 8(2021) Page Start: 2384 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B. (April 2021) Authors: Krenn, Martin; Schloegl, Monika; Pataraia, Ekaterina; Gelpi, Ellen; Schröder, Sebastian; Rauscher, Christian; Mayr, Johannes A.; Kotzot, Dieter; Zimprich, Fritz; Meitinger, Thomas; Wagner, Matias Journal: Seizure Issue: Volume 87(2021) Page Start: 25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome. (May 2020) Authors: Zimmermann, Milan; Schuster, Stefanie; Boesch, Sylvia; Korenke, G. Christoph; Mohr, Julia; Reichbauer, Jennifer; Kernstock, Christoph; Kotzot, Dieter; Spahlinger, Veronika; Schüle-Freyer, Rebecca; Schöls, Ludger Journal: Parkinsonism & related disorders Issue: Volume 74(2020) Page Start: 6 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Formation of a familial ring chromosome 18 investigated by SNP‐array analysis. Issue 7 (26th March 2014) Authors: Balci, Sevim; Zschocke, Johannes; Kotzot, Dieter; Ergün, Mehmet Ali; Spreiz, Ana Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1854 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Issue 10 (9th August 2019) Authors: Burkardt, Deepika D'Cunha; Zachariou, Anna; Loveday, Chey; Allen, Clare L.; Amor, David J.; Ardissone, Anna; Banka, Siddharth; Bourgois, Alexia; Coubes, Christine; Cytrynbaum, Cheryl; Faivre, Laurence; Marion, Gerard; Horton, Rachel; Kotzot, Dieter; Lay‐Son, Guillermo; Lees, Melissa; Low, Karen; ... Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Maternal uniparental isodisomy 11q13→qter in a dysmorphic and mentally retarded female with partial trisomy mosaicism 11q13→qter. Issue 12 (1st December 2001) Authors: Kotzot, Dieter; Röthlisberger, Benno; Riegel, Mariluce; Schinzel, Albert Journal: Journal of medical genetics Issue: Volume 38:Issue 12(2001) Page Start: 876 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗