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De-VUSify the phenotype: using protein models tointerpret complex genetic results
Akmanov, S., Farman, M., Nagy, D., Gröppel, G. & Kabak, E., 20 Aug 2025, In: Monatsschrift Kinderheilkunde. S 2, p. 150 P14-02.Research output: Contribution to journal › Poster Abstract › peer-review
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Kognitive Entwicklungsverzögerung bei zwei Brüdern mit familiärer dysalbuminämischer Hyperthyroxinämie, verursacht durch eine ALB-Variante
Fritz, T., Montero-Lopez, R., Blaschitz, A., Laurer, E., Hörtenhuber, T., Schirl, J., Tamas, M., Nagy, D. & Högler, W., 20 Aug 2025, In: Monatsschrift Kinderheilkunde. S 2, p. 116 P02-03.Research output: Contribution to journal › Poster Abstract › peer-review
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Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring
Nagy, D., Verheyen, S., Wigby, K. M., Borovikov, A., Sharkov, A., Slegesky, V., Larson, A., Fagerberg, C., Brasch-Andersen, C., Kibæk, M., Bader, I., Hernan, R., High, F. A., Chung, W. K., Schieving, J. H., Behunova, J., Smogavec, M., Laccone, F., Witsch-Baumgartner, M. & Zobel, J. & 2 others, , 15 Jan 2022, In: Genes. 13, 1, 154.Research output: Contribution to journal › Article › peer-review
Activities
- 1 Poster presentation
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De-VUSify the phenotype: using protein models to interpret complex genetic results
Akmanov, S. (Speaker), Farman, M. (Speaker), Nagy, D. (Speaker), Gröppel, G. (Speaker) & Kabak, E. (Speaker)
10 Sept 2025 → 12 Sept 2025Activity: Talk or presentation › Poster presentation › science-to-science