Number of the records: 1
Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children
Title Molecularly confirmed pontocerebellar hypoplasia in a large family from Slovakia with four severely affected children Author info Radvanska E. ... [et al.] Co-authors Radvanská Eva
Pos Zuzana
Zaťková Andrea
Hýblová Michaela
Bauer František 1950-
Szemes Tomáš
Kádaši Ľudevít 1952-
Radvánszky Ján
Note Bibliogr. odkazy. - Res. angl. Sign. C 526 Source Bratislavské lekárske listy : international journal for biomedical sciences and clinical medicine. - ISSN 0006-9248. - Bratislava : AEPress , 2022 . - Vol. 123, no. 8 (2022), s. 568-572 : ilustr., obr., tab. MeSH Subject choroby neurodegeneratívne
testovanie genetické
Rómovia
Subj. Headings hypoplázia pontocerebelárna typ 1 * gén EXOSC3 * c.92G>C * p.(Gly31Ala) Language English Country Slovak Republic Document kind Rozpis článkov z periodík Database ARTICLES 
article
Number of the records: 1