COBISS Co-operative Online Bibliographic system & services COBISS
Nika Schuermans
Personal bibliography for the period 2024-2025
2024
1.
DEMIDOV, German, YALDIZ, Burcu, GARCÍA PELÁEZ, José, DE BOER, Elke, SCHUERMANS, Nika,
et al., PETERLIN, Borut (research coworker), et al. Comprehensive reanalysis for CNVs
in ES data from unsolved rare disease cases results in new diagnoses. npj genomic medicine. 2024, vol. 9, [article no.] 49, str. 1-24, ilustr. ISSN 2056-7944. DOI: 10.1038/s41525-024-00436-6. [COBISS.SI-ID 240092675]
2025
2.
LAURIE, Steven, STEYAERT, Wouter, DE BOER, Elke, POLAVARAPU, Kiran, SCHUERMANS, Nika,
SOMMER, Anna K., DEMIDOV, German, MAVER, Aleš, PETERLIN, Borut, et al. Genomic reanalysis
of a pan-European rare-disease resource yields new diagnoses. Nature medicine. [Online ed.]. Feb. 2025, vol. 31, str. 478–489, ilustr. ISSN 1546-170X. DiRROS - Digitalni repozitorij raziskovalnih organizacij Slovenije, DOI: 10.1038/s41591-024-03420-w. [COBISS.SI-ID 239892227]