- Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles2021 | 1. lékařská fakulta
- Ztráta funkce Sco1 a její interakce s cytochrom c oxidázou2009 | 1. lékařská fakulta
- De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies2022 | 2. lékařská fakulta
- Loss-of-function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling2023 | 2. lékařská fakulta
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | 2. lékařská fakulta
- Germline CDKN1B loss-of-function variants cause pediatric cushing's disease with or without an MEN4 phenotype2020 | 2. lékařská fakulta
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | 2. lékařská fakulta
- Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy2021 | 1. lékařská fakulta
- A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants2019 | 1. lékařská fakulta
- Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN12024 | 1. lékařská fakulta
- Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities2020 | 1. lékařská fakulta
- Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-192023 | 2. lékařská fakulta
- De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome2013 | 2. lékařská fakulta
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia2016 | 1. lékařská fakulta
- Pregnane-based steroids are novel positive NMDA receptor modulators that may compensate for the effect of loss-of-function disease-associated GRIN mutations2022 | 1. lékařská fakulta
- Vrozená vnímavost k mykobakteriálním onemocněním2016 | 1. lékařská fakulta, 2. lékařská fakulta
- Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction2023 | 1. lékařská fakulta
- Common and rare TBK1 variants in early-onset Alzheimer disease in a European cohort2018 | 1. lékařská fakulta
- Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia2020 | 1. lékařská fakulta
- Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation2015 | 1. lékařská fakulta
- Využití inaktivace molekuly ANGPTL3 v léčbě dyslipidemií2022 | Lékařská fakulta v Hradci Králové
- Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer's disease2017 | 1. lékařská fakulta, 3. lékařská fakulta
- Transformace střevních epiteliálních buněk onkoproteinem Src - zvýšený růst nezávislý na podkladu při mutaci Apc2009 | Přírodovědecká fakulta
- KIT Mutations and Sequence Changes in Genes Encoding SDH Complex Possibly Need Not be Mutually Exclusive in Gastrointestinal Stromal Tumors2012 | Lékařská fakulta v Plzni
- Developmental roles of Auxin Binding Protein 1 in Arabidopsis thaliana2021 | Přírodovědecká fakulta, Ústřední knihovna
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A22008 | 2. lékařská fakulta
- Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings2021 | 2. lékařská fakulta, Ústřední knihovna
- A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia2021 | 1. lékařská fakulta
- Tubulocystic Carcinoma of the Kidney With Poorly Differentiated Foci A Frequent Morphologic Pattern of Fumarate Hydratase-deficient Renal Cell Carcinoma2016 | Lékařská fakulta v Plzni
- Hypofosfatázie - onemocnění skeletu, na které musíme myslet2017 | 2. lékařská fakulta