Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
Necpál, Ján, Zech, Michael, Valachová, Alica, Sedláček, Zdeněk, Bendová, Šárka, Hančárová, Miroslava, Okáľová, Katarína, Winkelmann, Juliane, Jech, Robert
Published in Parkinsonism & related disorders (01.08.2020)
Published in Parkinsonism & related disorders (01.08.2020)
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Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles
Radvanszky, Jan, Hyblova, Michaela, Radvanska, Eva, Spalek, Peter, Valachova, Alica, Magyarova, Gabriela, Bognar, Csaba, Polak, Emil, Szemes, Tomas, Kadasi, Ludevit
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Published in Journal of clinical medicine (31.08.2021)
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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
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Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Severe paroxysmal dyskinesias without epilepsy in a RHOBTB2 mutation carrier
Necpál, Ján, Zech, Michael, Valachová, Alica, Sedláček, Zdeněk, Bendová, Šárka, Hančárová, Miroslava, Okáľová, Katarína, Winkelmann, Juliane, Jech, Robert
Published in Parkinsonism & related disorders (01.08.2020)
Published in Parkinsonism & related disorders (01.08.2020)
Get full text
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