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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 Severe congenital T-lymphocytopenia may affect the outcome of neonatal intensive care Author Hulínková Ivana Co-authors Medová Veronika SAVBIOMED - Biomedicínske centrum SAV Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Dobšinská Veronika Ficek Andrej Ciznar P. Source document Biomedical Papers. Vol. 67, no. (2023), p. Year 2023 article
Title The importance of defining the age-specific TREC/KREC levels for detection of various inborn errors of immunity in pediatric and adult patients Author Medová Veronika SAVBIOMED - Biomedicínske centrum SAV Co-authors Hulínková Ivana Laiferová Nikoleta Urdová Veronika Ciznar P. Dolníková Dana Krasňanová Veronika Fabri Oksana Ficek Andrej Šoltýsová Andrea 1980- SAVBIOMED - Biomedicínske centrum SAV Source document Clinical Immunology. Vol. 245 (2022), art. no. 109155 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 2022 DOI 10.1016/j.clim.2022.109155 URL URL link File name Access Size Downloaded Type License The importance of defining the age-specific TRECKREC levels for detection.pdf available 5.4 MB 1 Publisher's version article
Title Immunologic phenotype of a child with the MEHMO syndrome Author Trochanová Ivana Co-authors Staníková Daniela 1984 SAVEXEND - Ústav experimentálnej endokrinológie SAV Škopková Martina SAVEXEND - Ústav experimentálnej endokrinológie SAV Haštová Klaudia Gašperíková Daniela SAVEXEND - Ústav experimentálnej endokrinológie SAV Staník Juraj SAVEXEND - Ústav experimentálnej endokrinológie SAV Ciznar P. Action APVV-17-0296. Štúdium genetických príčin zriedkavých ochorení s dôrazom na metabolické poruchy asociované s hypoglykémiami a poruchy mitochondrií : BMC-ÚEE 2019/20-LFUK-8. Komplexná inovatívna diagnostika a personalizovaná liečba diabetes mellitus u detí : 2019-2022 : LF UK : BMC SAV VEGA 2/0083/17. Celoexómové sekvenovanie u pacientov s podozrením na primárne mitochondriopatie : 2017-2020 Source document Physiological Research. Vol. 69, no. 5 (2020), p. 927-932 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 2020 DOI 10.33549/physiolres.934498 URL URL link File name Access Size Downloaded Type License Immunologic phenotype of a child with the MEHMO syndrome.pdf Neprístupný/archív 497.4 KB 2 Publisher's version article
Title Impact of interleukin 13 (IL13) genetic polymorphism Arg130Gln on total serum immunoglobulin (IgE) levels and interferon (IFN)-gama gene expression Author Smolková Božena 1968- SAVBIOMED - Biomedicínske centrum SAV Co-authors Tulinská J. Palkovicova Murinova L. Buociková Verona Liskova A. Rausova K. Kuricová M. Patayová Henrieta Šustrová M. Neubauerová E. Ilavská S. Szabová M. Nemessanyi T. Jahnová E. Dušinská Mária Ciznar P. Fuortes L. Source document Clinical and Experimental Immunology. Vol. 188, no. 1 (2017) p. 45-52 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 2017 DOI 10.1111/cei.12923 File name Access Size Downloaded Type License Impact of interleukin 13 (IL13) genetic polymorphism Arg130Gln on total serum immunoglobulin (IgE) levels and interferon (IFN)-gama gene expression.pdf Prístupný z IP adries SAV 302.7 KB 2 Publisher's version article