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Title Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death Author Weis Denisa Co-authors Lin Liangguang L. Wang Huilun H. Li Zexin Jason Kusikova Katarina Ciznar P. Wolf Hermann M. Leiss-Piller Alexander Wang Zhihong Wei Xiaoqiong Weis Serge Skalická Katarína Hrčková Gabriela Danisovic Lubos Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Yang Tingxuan T. Feichtinger René G. Mayr Johannes A. Qi Ling Source document Journal of clinical Investigation. Vol. 134, no. 2 (2024), art. no. e170882 Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2024 DOI 10.1172/JCI170882 File name Access Size Downloaded Type License Biallelic Cys141Tyr variant of SEL1L is associated with.pdf available 11.1 MB 4 Publisher's version 
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Title Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool Author Kušíková Katarína Co-authors Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Ficek Andrej Feichtinger René G. Mayr Johannes A. Škopková Martina SAVBIOMED - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED - Biomedicínske centrum SAV Kolníková Miriam Ornig Karoline Kalev Ognian Weis Serge Weis Denisa Action APVV-17-0296. Štúdium genetických príčin zriedkavých ochorení s dôrazom na metabolické poruchy asociované s hypoglykémiami a poruchy mitochondrií : BMC-ÚEE Source document Genes-basel. Vol. 14, no. 12 (2023), art. no. 2174 Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2023 DOI 10.3390/genes14122174 File name Access Size Downloaded Type License Prognostic Value of Genotype–Phenotype Correlations in.pdf available 2 MB 1 Publisher's version article