Research output per year
Research output per year
Fingerprint
Dive into the research topics where Dieter Kotzot is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
-
Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicotine consumption as risk factors
Leitinger, M. (First author), Broggi, S., Spendel, M. (Co-author), Kalss, G. (Co-author), Petrovic, I., Krainz, H. (Co-author), Rossini, F. (Co-author), Hoefler, J. (Co-author), Toma, A. (Co-author), Kuchukhidze, G. (Co-author), Mauritz, M. (Co-author), Poppert, K.-N., Crespo-Pimentel, B. (Co-author), Bosque-Varela, P. (Co-author), Pleyers, A., Ganger, P. (Co-author), Kotzot, D. (Co-author), Lessel, D. (Co-author), Griessenauer, C. J. (Co-author) & Trinka, E. (Last author), 23 Nov 2024, In: Epilepsia Open. 7 p.Research output: Contribution to journal › Original Article › peer-review
Open Access -
Recessive Dystrophic Epidermolysis bullosa due to Hemizygous 40 kb Deletion of COL7A1 and the Proximate PFKFB4 Gene Focusing on the Mutation c.425A>G Mimicking Homozygous Status
Klausegger, A. (First author), Jeschko, N., Grammer, M., Cemper-Kiesslich, J., Neuhuber, F., Diem, A. (Co-author), Breitenbach-Koller, H., Sander, G., Kotzot, D. (Co-author), Bauer, J. W. (Co-author) & Laimer, M. (Last author), 11 Oct 2022, In: DIAGNOSTICS. 12, 10Research output: Contribution to journal › Original Article › peer-review
-
A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.
Feichtinger, R. (First author), Hüllen, A., Koller, A. (Co-author), Kotzot, D. (Co-author), Grote, V., Rapp, E., Hofbauer, P., Brugger, K., Thiel, C., Mayr, J. A. (Co-author) & Wortmann, S. (Last author), 2021, In: EMBO MOLECULAR MEDICINE. 13, 9, p. e14332Research output: Contribution to journal › Original Article › peer-review
22 Citations (Web of Science) -
Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.
Krenn, M., Schloegl, M., Pataraia, E., Gelpi, E., Schröder, S., Rauscher, C. (Co-author), Mayr, J. A. (Co-author), Kotzot, D. (Co-author), Zimprich, F., Meitinger, T. & Wagner, M., 2021, In: SEIZURE-EUROPEAN JOURNAL OF EPILEPSY. 87, p. 25-29Research output: Contribution to journal › Original Article › peer-review
5 Citations (Web of Science) -
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Dias, C., Pfundt, R., Kleefstra, T., Shuurs-Hoeijmakers, J., Boon, E. M. J., van Hagen, J. M., Zwijnenburg, P., Weiss, M. M., Keren, B., Mignot, C., Isapof, A., Weiss, K., Hershkovitz, T., Iascone, M., Maitz, S., Feichtinger, R. (Co-author), Kotzot, D. (Co-author), Mayr, J. A. (Co-author), Ben-Omran, T. & Mahmoud, L. & 9 others, , 2021, In: AM J MED GENET PART A. 185, 8, p. 2384-2390Research output: Contribution to journal › Original Article › peer-review
13 Citations (Web of Science)
-
Syndromclub der ÖGH
Kotzot, D. (Organiser)
3 May 2024Activity: Participating in or organising an event › Organising a conference, workshop, ... › participants: 11-20
-
Genetik
Berger, E. (Instructor), Aschauer-Wallner, S. (Instructor), Bieler, L. S. (Instructor), Kotzot, D. (Instructor), Frauenlob, T. (Instructor), Floride, E. (Instructor) & Ganger, P. (Instructor)
2024 → 2025Activity: Other scientific activities › Teaching Activity