Research output per year
Research output per year
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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
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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. (Co-author), Crespo-Pimentel, B. (Co-author), Bosque-Varela, P. (Co-author), Pleyers, A. (Co-author), 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
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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
27 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
6 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
14 Citations (Web of Science)
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Syndromclub der ÖGH
Kotzot, D. (Organiser)
3 May 2024Activity: Participating in or organising an event › Organising a conference, workshop, ... › participants: 11-20
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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