Publikace
- Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger1998 | 2. lékařská fakulta
- The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation2023 | 2. lékařská fakulta
- Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome2020 | 2. lékařská fakulta
- The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?2016 | 1. lékařská fakulta, 2. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Dětská nefrologie2015 | 1. lékařská fakulta, 2. lékařská fakulta, 3. lékařská fakulta, Lékařská fakulta v Hradci Králové
- Long Term Follow-Up in a Patient with a De Novo Microdeletion of 14q11.2 Involving CHD82015 | 2. lékařská fakulta
- An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome2015 | 2. lékařská fakulta
- DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects2015 | 2. lékařská fakulta
- Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome2015 | 2. lékařská fakulta
- Exome sequencing for identification of disease genes for rare syndromes. Experiences from Hamburg2014 | 2. lékařská fakulta
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