- Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma2011 | 1. lékařská fakulta, Lékařská fakulta v Plzni
- A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome2021 | Lékařská fakulta v Plzni
- Spontaneous nonsense mutation in the tuftelin 1 gene is associated with abnormal hair appearance and amelioration of glucose and lipid metabolism in the rat2024 | 1. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna
- Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation2015 | 1. lékařská fakulta
- Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial2017 | 2. lékařská fakulta
- The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene2016 | Lékařská fakulta v Plzni
- Lipidized prolactin-releasing peptide improved glucose tolerance in metabolic syndrome: Koletsky and spontaneously hypertensive rat study2018 | 1. lékařská fakulta
- Aberrant splicing of the COL4A5 gene in patients with Alport syndrome1994 | Ústřední knihovna
- Identification of common cystic fibrosis mutations in African-Americans with cystic fibrosis increases the detection rate to 75%1997 | 2. lékařská fakulta
- Mutations in ANTXR1 Cause GAPO Syndrome2013 | 1. lékařská fakulta
- Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations2010 | 2. lékařská fakulta
- A case of multiple familial trichoepitheliomas responding to treatment with the Hedgehog signaling pathway inhibitor vismodegib2018 | Lékařská fakulta v Plzni
- DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects2015 | 2. lékařská fakulta
- Molecular analysis of SALL1 mutations in Townes-Brocks syndrome1999 | 2. lékařská fakulta
- Deflazacort versus prednisone/prednisolone for maintaining motor function and delaying loss of ambulation: A post HOC analysis from the ACT DMD trial2018 | 2. lékařská fakulta
- Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency2016 | 1. lékařská fakulta
- Trvalá mírná hyperglykémie u několika členů jedné rodiny: objev nové mutace Glu268Stop v genu pro glukokinázu (MODY 2)2002 | 3. lékařská fakulta
- Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema2011 | 2. lékařská fakulta
- Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain2014 | 1. lékařská fakulta
- A mutation in the cystic fibrosis transmembrane conductance regulator gene associated with elevated sweat chloride concentrations in the absence of cystic fibrosis1998 | Ústřední knihovna
- Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome2008 | 2. lékařská fakulta
- Mutation analysis of TRPS1 gene including core promoter, 5 ' UTR, and 3 ' UTR regulatory sequences with insight into their organization2017 | 1. lékařská fakulta, Přírodovědecká fakulta, Matematicko-fyzikální fakulta
- The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer2013 | 1. lékařská fakulta
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | 2. lékařská fakulta
- Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa2013 | Publikace bez příslušnosti k fakultě
- Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families2017 | 1. lékařská fakulta
- The effect of idursulfase on growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)2013 | 1. lékařská fakulta
- Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis2012 | 2. lékařská fakulta
- Bilineal inheritance of pathogenic PKD1 and PKD2 variants in a Czech family with autosomal dominant polycystic kidney disease - a case report2018 | 1. lékařská fakulta
- Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease2017 | 1. lékařská fakulta