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- Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation2007 | 2. lékařská fakulta
- GBA variants in REM sleep behavior disorder: A multicenter study2020 | 1. lékařská fakulta
- Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability2023 | 1. lékařská fakulta
- DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS2005 | 2. lékařská fakulta
- Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia2022 | 1. lékařská fakulta