Onderzoeksoutput per jaar
Onderzoeksoutput per jaar
Persoonlijk profiel
Expertise
Top Graduate of the 2019 Examination for the European Certificate in Medical Genetics and Genomics (ECMGG), organized by UEMS-Section Medical Genetics (UEMS-SMG) in collaboration with both ESHG and the Branch of Medical Genetics and Genomics of EBMG, at the ESHG 2019 conference in Gothenburg
Externe posities
Member, Belgian Professional Organization for Clinical Geneticists
jun 2021 → …Secretary of the Examination Executive Committee, UEMS-SMG
sep 2019 → …Member of the ECMGG Examination Group, UEMS-SMG
Vingerafdruk
Verdiep u in de onderzoeksgebieden waarop Laura Polsler actief is. Deze onderwerplabels komen uit het werk van deze persoon. Samen vormen ze een unieke vingerafdruk.
- 1 Soortgelijke profielen
Netwerk
Recente externe samenwerking op landen-/regioniveau. Duik in de details door op de stippen te klikken of
Onderzoeksoutput
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Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Reuter, M. S., Zech, M., Hempel, M., Altmüller, J., Heung, T., Pölsler, L., Santer, R., Thiele, H., Trost, B., Kubisch, C., Scherer, S. W., Rudnik-Schöneborn, S., Bassett, A. S. & Lessel, D., mei 2022, In: European Journal of Human Genetics. 30, 5, blz. 611-618 8 blz.Onderzoeksoutput: Article › peer review
1 Citaat (Scopus) -
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Palmer, E. E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M. H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F. S., Chedrawi, A., Hashem, M. O., Stamberger, H., Weckhuysen, S., Vanlander, A., Ceulemans, B. & 79 anderen, , 16 nov 2022, In: Molecular Psychiatry.Onderzoeksoutput: Article › peer review
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Specialist Medical Genetics Training Requirements Across Europe
Anderson, F., Moog, U., Turnpenny, P. D., Ramos, F. J., Tobias, E. S., Poelsler, L., Arens, Y. & Berg, J., apr 2022, In: European Journal of Human Genetics. 30, SUPPL 1, blz. 568-568Onderzoeksoutput: Meeting abstract (Journal)
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A novel KCNK9 missense variant outside the classic p.Gly236 substitution causes Birk Barel syndrome
Uyttebroeck, S., Wassenberg, T., Michotte, A., Cooreman, R., Keymolen, K., Hes, F. J. & Poelsler, L., 17 sep 2021.Onderzoeksoutput: Poster
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Hereditary Syndromes and Pancreatic Cancer: Textbook of Pancreatic Cancer
Polsler, L., feb 2021, Pancreatic Cancer. Springer, blz. 29-49 20 blz.Onderzoeksoutput: Chapter › Specialist › peer review
Prijzen
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Science Award of the ÖGH (Austrian Society of Human Genetics)
Polsler, Laura (Recipient), 30 sep 2016
Prijs: Prize (including medals and awards)
Activiteiten
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ECMGG Workshop Lodz 03/2022
Laura Polsler (Organiser)
23 mrt 2022 → 25 mrt 2022Activiteit: Participating in or organizing an event at an external academic organisation
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European Human Genetics Conference 2022
Veronik Hutse (Participant), Frederik Jan Hes (Participant), Ileen Slegers (Participant), Thomy de Ravel (Participant), Elise Vantroys (Participant) & Laura Polsler (Participant)
10 jun 2022 → 14 jun 2022Activiteit: Participation in conference
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40 years of Medical Genetics at UZ Brussel
Thomy de Ravel (Participant), Kim Van Berkel (Participant), Laura Polsler (Participant), Mary-Louise Bonduelle (Participant), Sonia Van Dooren (Participant), Toon Janssen (Participant), Elia Fernandez Gallardo (Participant) & Veerle Berckmoes (Participant)
1 okt 2022Activiteit: Participation in conference
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ECMGG SQA (Evenement)
Laura Polsler (Host)
17 sep 2021Activiteit: Work on academic committees and working groups
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20. Jahrestagung Der ÖGH
Laura Polsler (Participant)
23 sep 2021 → 24 sep 2021Activiteit: Participation in conference