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The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation
Title The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation Author Sekelská Martina Co-authors Briatková Lenka Olčák T. Bolčeková Anna Ilenčíková Denisa Kádaši Ľudevít 1952- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV ORCID Zaťková Andrea 1971- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV SCOPUS RID ORCID Source document General Physiology and Biophysics. Vol. 36, no. 2 (2017) p. 205-210 Language eng - English Country SK - Slovak Republic Document kind rozpis článkov z periodík (rbx) Citations BORRIE, S.C. - PLASSCHAERT, E. - CALLAERTS-VEGH, Z. - YOSHIMURA, A. - D'HOOGE, R. - ELGERSMA, Y. - KUSHNER, S.A. - LEGIUS, E. - BREMS, H. MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders. In MOLECULAR AUTISM. ISSN 2040-2392, JUL 26 2021, vol. 12, no. 1. PETRAK, B. - ZEMKOVA, D. - SEEMAN, P. - TESNER, P. - POUROVA, R.K. Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurofibromatosis type 1. In CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE. ISSN 1210-7859, 2021, vol. 84, no. 2, p. 211-213. Category ADDA - Scientific papers in domestic 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 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.4149/gpb_2016032 article
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) 2017 2016 1.170 Q4 0.378 Q3
Number of the records: 1