- The restructuring of dopamine receptor subtype gene transcripts in c-fos KO mice2012 | 1. lékařská fakulta
- Gastric hyperplasia in mice with targeted disruption of the carbonic anhydrase gene Car92002 | 3. lékařská fakulta
- Alagille Syndrome Mimicking Biliary Atresia in Early Infancy2015 | 2. lékařská fakulta
- Clinical variability and expression of the NBN c.657del5 allele in Nijmegen Breakage Syndrome2009 | 2. lékařská fakulta
- Prevalence of mutations in AGPAT2 among human lipodystrophies2003 | 2. lékařská fakulta
- Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein2007 | 2. lékařská fakulta
- Life-Long Correction of Hyperbilirubinemia with a Neonatal Liver-Specific AAV-Mediated Gene Transfer in a Lethal Mouse Model of Crigler-Najjar Syndrome2014 | 1. lékařská fakulta
- Corticofugal and Brainstem Functions Associated With Medial Olivocochlear Cholinergic Transmission2022 | 3. 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
- Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency2008 | 2. lékařská fakulta
- Specifická kooperace mezi Imp-alpha2 and Imp-beta/Ketel při vytváření vřeténka během časných dělení jádra u Drosophily.2012 | 1. lékařská fakulta
- Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families2008 | 2. lékařská fakulta
- Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations2008 | 2. lékařská fakulta
