Number of the records: 1
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death
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 SCOPUS RID ORCID Danisovic Lubos Šoltýsová Andrea 1980- SAVBIOMED ; SAVUKTRA - 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 Language eng - English Country US - United States of America Note open access Document kind rozpis článkov z periodík (rbx) 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 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1172/JCI170882 
article
File name Access Size Downloaded Type License Biallelic Cys141Tyr variant of SEL1L is associated with.pdf available 11.1 MB 4 Publisher's version rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2024 2023 13.3 Q1 4.833 Q1
Number of the records: 1