- HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma2016 | Lékařská fakulta v Hradci Králové
- Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint2013 | 1. lékařská fakulta
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy2015 | 2. lékařská fakulta
- Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies2015 | 2. lékařská fakulta
- HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain2015 | 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
- Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome2014 | 2. lékařská fakulta
- Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation2018 | 1. lékařská fakulta, 2. lékařská fakulta
- Macrovascular involvement in a child with atypical hemolytic uremic syndrome2014 | 2. lékařská fakulta
- Gastrointestinal Stromal Tumors (GIST): A Single Center Experience2012 | 3. lékařská fakulta
- Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia2013 | 2. lékařská fakulta
- Screening for mutations in transcription factors in a Czech cohort of 170 patients with congenital and early-onset hypothyroidism: identification of a novel PAX8 mutation in dominantly inherited early-onset non-autoimmune hypothyroidism2007 | 2. lékařská fakulta
- Enterovirus RNA in Peripheral Blood May Be Associated with the Variants of rs1990760, a Common Type 1 Diabetes Associated Polymorphism in IFIH12012 | 2. lékařská fakulta
- Polymorphisms in the Innate Immune IFIH1 Gene, Frequency of Enterovirus in Monthly Fecal Samples during Infancy, and Islet Autoimmunity2011 | 2. lékařská fakulta
- European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia2017 | 2. lékařská fakulta
- Pacak-Zhuang Syndrome: A New Kid on The Block2014 | 2. lékařská fakulta
- Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension2013 | Lékařská fakulta v Hradci Králové
- Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A22008 | 2. lékařská fakulta
- Gitelman Syndrome as a Cause of Psychomotor Retardation in a Toddler2013 | 1. lékařská fakulta, Lékařská fakulta v Hradci Králové
- Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome2014 | 2. lékařská fakulta
- Acute kidney injury in two children caused by renal hypouricaemia type 22012 | 1. lékařská fakulta
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis2013 | 1. lékařská fakulta, Přírodovědecká fakulta, 3. lékařská fakulta
- Nález nové homozygotní inzerce v genu SLC2A9 způsobující renální hypourikémii.2011 | 1. lékařská fakulta
- CRAC channel opening is determined by a series of Orai1 gating checkpoints in the transmembrane and cytosolic regions2021 | Matematicko-fyzikální fakulta
- Vrozená vnímavost k mykobakteriálním onemocněním2016 | 1. lékařská fakulta, 2. lékařská fakulta
- A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report2020 | 1. lékařská fakulta
- Intravenous Pamidronate in the Treatment of Severe Idiopathic Infantile Hypercalcemia2013 | Lékařská fakulta v Hradci Králové
- Lurcher Mouse2013 | Lékařská fakulta v Plzni
- Mutation of Nogo-B Receptor, a Subunit of cis-Prenyltransferase, Causes a Congenital Disorder of Glycosylation2014 | 1. lékařská fakulta
- Reduced Gamma Oscillations in a Mouse Model of Intellectual Disability: A Role for Impaired Repetitive Neurotransmission?2014 | 2. lékařská fakulta