- Autosomálně recesivní a X-vázané ataxie2007 | 2. lékařská fakulta
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | 2. lékařská fakulta
- Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)2020 | 2. lékařská fakulta
- Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases2022 | 1. lékařská fakulta
- Case report: Severe hypertension-induced priapism in an infant with unrecognized autosomal recessive polycystic kidney disease2023 | 2. lékařská fakulta, Ústřední knihovna
- Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease2015 | 2. lékařská fakulta, 1. lékařská fakulta
- Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease2023 | 2. lékařská fakulta
- Ambulatory blood pressure and hypertension control in children with autosomal recessive polycystic kidney disease: clinical experience from two central European tertiary centres2022 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Autozomálně recesivní etnické choroby českých Romů2006 | 2. lékařská fakulta
- Autozomálně recesivní a autozomálně dominantní polycystická choroba ledvin u dětí1999 | 2. lékařská fakulta, 1. lékařská fakulta
- Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis1998 | 2. lékařská fakulta
- Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)2005 | 2. lékařská fakulta
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | Publikace bez příslušnosti k fakultě
- Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic2014 | 2. lékařská fakulta
- Mutace ROR2 genu u autozomálně recesivního Robinowova syndromuPublikace bez příslušnosti k fakultě
- Recent progress of the ARegPKD registry study on autosomal recessive polycystic kidney disease2017 | 2. lékařská fakulta
- Familial microcephaly with normal intelligence, immunodeficiency, and risk for lymphoreticular malignancies: A new autosomal recessive disorder1985 | 2. lékařská fakulta
- Premature chromosome condensation in humans associated with microcephaly and mental retardation: A novel autosomal recessive condition2002 | Ústřední knihovna
- Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease2018 | 2. lékařská fakulta
- Molekulárně genetická vyšetření u pacientů a rodin s vrozenou autosomálně recesivní nesyndromovou ztrátou sluchu a hluchotou2003 | 2. lékařská fakulta
- Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome2007 | 2. lékařská fakulta
- Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity2001 | Ústřední knihovna
- Kidney Versus Combined Kidney and Liver Transplantation in Young People With Autosomal Recessive Polycystic Kidney Disease: Data From the European Society for Pediatric Nephrology/European Renal Association-European Dialysis and Transplant (ESPN/ERA-EDTA) Registry2016 | 2. lékařská fakulta
- A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people2023 | 2. lékařská fakulta, Ústřední knihovna, Lékařská fakulta v Plzni, 3. lékařská fakulta
- Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension2023 | 2. lékařská fakulta
- Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease2018 | 1. lékařská fakulta
- Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants2021 | 2. lékařská fakulta
- A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype2019 | 2. lékařská fakulta, 1. lékařská fakulta
- Autosomal recessive congenital total Lipodystrophy of the Berardinelli-Seip type: clinical features in 15 new patients1995 | 2. lékařská fakulta
- Autosomal recessive hereditary spastic paraplegia type SPG35 due to a novel variant in the FA2H gene in a Czech patient2019 | 2. lékařská fakulta