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- PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome2019 | 1. lékařská fakulta
- Deletions of 9q21.3 Including NTRK2 Are Associated With Severe Phenotype2015 | 2. lékařská fakulta
- Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome2014 | 2. lékařská fakulta
- De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome2020 | 2. lékařská fakulta
- Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations2008 | 2. lékařská fakulta