Avtor/Urednik | Paděrová, J.; Holubová, A.; Simandlová, M.; Puchmajerová, A.; Vlčková, M.; Malíková, M.; Pourová, R.; Vejvalková, S.; Maver, Aleš | |
Naslov | Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring | |
Tip | članek | |
Vol. in št. | Letnik 90, št. 3 | |
Leto izdaje | 2017 | |
Obseg | str. 230-237 | |
ISSN | 0009-9163 - Clinical genetics | |
Jezik | eng | |
Proste vsebinske oznake | dominantly inherited disorder Kabuki syndrome de novo pathogenic variation clinical genetics array CGH phenotyping Sanger DNA sequencin |