COBISS Kooperativni online bibliografski sistem in servisi COBISS

Katja Lohmann

Osebna bibliografija za obdobje 2023-2024

2023

1. PAULY, Martje G., KORENKE, G. Christoph, DIAW, Sokhna Haissatou, GRÖZINGER, Anne, CAZURRO-GUTIÉRREZ, Ana, PÉREZ-DUEŇAS, Belén, GONZÁLEZ, Victoria, MACAYA, Alfons, SERRANO ANTÓN, Ana Teresa, PETERLIN, Borut, BABIĆ BOŽOVIĆ, Ivana, MAVER, Aleš, MÜNCHAU, Alexander, LOHMANN, Katja. The expanding phenotypical spectrum of WARS2-related disorder : four novel cases with a common recurrent variant. Genes. 2023, iss. 4, vol. 14, str. 1-11, ilustr. ISSN 2073-4425. https://www.mdpi.com/2073-4425/14/4/822, DOI: 10.3390/genes14040822. [COBISS.SI-ID 192772099]

2024

2. MAVER, Aleš, LOHMANN, Katja, BOROVEČKI, Fran, WOLSTENHOLME, Nicola, TAYLOR, Rachel L., SPIELMANN, Malte, HAACK, Tobias B., GERBERDING, Matthias, PETERLIN, Borut, GRAESSNER, Holm. Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network. European journal of human genetics. 2024, vol. 32, iss. 8, str. 1014–1021. ISSN 1476-5438. DiRROS - Digitalni repozitorij raziskovalnih organizacij Slovenije, DOI: 10.1038/s41431-024-01639-2. [COBISS.SI-ID 240037379]