Classes
Publications
- The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers2013 | First Faculty of Medicine
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | First Faculty of Medicine
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | First Faculty of Medicine
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | First Faculty of Medicine
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | First Faculty of Medicine
- Bioinformatic perspectives in the neuronal ceroid lipofuscinoses2013 | First Faculty of Medicine
- Gout: A Step Forward2012 | First Faculty of Medicine
- Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation2012 | First Faculty of Medicine
- Uromodulin-Associated Kidney Disease2011 | First Faculty of Medicine
- Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis2011 | First Faculty of Medicine
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