| Author/Editor | Paděrová, J.; Holubová, A.; Simandlová, M.; Puchmajerová, A.; Vlčková, M.; Malíková, M.; Pourová, R.; Vejvalková, S.; Maver, Aleš | |
| Title | Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring | |
| Type | članek | |
| Vol. and No. | Letnik 90, št. 3 | |
| Publication year | 2017 | |
| Volume | str. 230-237 | |
| ISSN | 0009-9163 - Clinical genetics | |
| Language | eng | |
| Keywords | dominantly inherited disorder Kabuki syndrome de novo pathogenic variation clinical genetics array CGH phenotyping Sanger DNA sequencin |