Předměty
Publikace
- Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene2013 | 1. lékařská fakulta
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | 1. lékařská fakulta
- Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a Cathepsin D variant p.A58V2013 | 1. lékařská fakulta
- Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing2013 | 1. lékařská fakulta
- Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: Cellular models of de novo purine biosynthesis deficiency disorders2013 | 1. lékařská fakulta
- Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver2012 | 1. lékařská fakulta, 3. lékařská fakulta
- Mutace v genech pro ATIC a ADSL ovlivňují formování purinosomu v kultivovaných kožních fibroblastech pacientů s AICA-ribosidurií a deficitem ADSL.2012 | 1. lékařská fakulta
- Compensatory upregulation of respiratory chain complexes III and IV in isolated deficiency of ATP synthase due to TMEM70 mutation2012 | 1. lékařská fakulta
- Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations2012 | 1. lékařská fakulta
- Onemocnění ledvin asociované s uromodulinem2011 | 1. lékařská fakulta
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