Publikace
- Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder2020 | 1. lékařská fakulta
- Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL22016 | 1. lékařská fakulta
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | 1. lékařská fakulta
- Exprese a procesovani proteinu TMEM 702011 | 1. lékařská fakulta
- Mutace v TMEM70 způsobuje izolovaný deficit ATP syntasy a neonatální mitochondriální encefalo-kardiomyopatii2008 | 1. lékařská fakulta
- Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy2024 | 1. lékařská fakulta, 2. lékařská fakulta
- Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype2023 | 1. lékařská fakulta
- ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability2023 | 1. lékařská fakulta
- Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene2023 | 1. lékařská fakulta
- ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder2023 | 1. lékařská fakulta
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