- HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma2016 | Lékařsk á fakulta v Hradci Králové
- Microbiota transplant to control inflammation in a patient with NLRC4 gain-of-function-induced disease2023 | 1. lékařská fakulta
- 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
- Immunoprofiling of monocytes in STAT1 gain-of-function chronic mucocutaneous candidiasis2022 | 2. lékařská fakulta, 1. lékařská fakulta
- Neutrophils in STAT1 Gain-Of-Function Have a Pro-inflammatory Signature Which Is Not Rescued by JAK Inhibition2023 | 2. lékařská fakulta
- Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome2014 | 2. lékařská fakulta
- Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera2016 | Přírodovědecká fakulta
- Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation2018 | 2. lékařská fakulta, 1. lékařská fakulta
- A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder2018 | 1. lékařská fakulta
- Coexistence of gain-of-function JAK2 germ line mutations with JAK2(V617F) in polycythemia vera2016 | 1. lékařská fakulta
- Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature2022 | 2. lékařská fakulta, 1. lékařská fakulta, Ústřední knihovna
- New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe2013 | Lékařská fakulta v Hradci Králové, 2. lékařská fakulta
- New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe2013 | Publikace bez příslušnosti k fakultě
- Aberrant tolerogenic functions and proinflammatory skew of dendritic cells in STAT1 gain-of-function patients may contribute to autoimmunity and fungal susceptibility2023 | 2. lékařská fakulta
- Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2 alpha) polymorphism lowers hemoglobin concentration in Tibetan highlanders2017 | 1. lékařská fakulta
- Macrovascular involvement in a child with atypical hemolytic uremic syndrome2014 | 2. lékařská fakulta
- Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome2023 | 2. lékařská fakulta
- Molekulární genetika hypercholesterolemie2016 | 1. lékařská fakulta
- Nové poznatky a pokroky v oblasti primárních imunodeficiencí2015 | 2. lékařská fakulta
- Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals2021 | Ústřední knihovna
- JAK-inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID and EBMT IEWP retrospective study2024 | 2. lékařská fakulta, 1. lékařská fakulta, Lékařská fakulta v Plzni
- Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia2010 | 2. lékařská fakulta
- Pacak-Zhuang Syndrome: A New Kid on The Block2014 | 2. lékařská fakulta
- Developmental roles of Auxin Binding Protein 1 in Arabidopsis thaliana2021 | Přírodovědecká fakulta, Ústřední knihovna
- Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension2013 | Lékařská fakulta v Hradci Králové
- Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome2014 | 2. lékařská fakulta
- KMT2A-CBL rearrangements in acute leukemias: clinical characteristics and genetic breakpoints2021 | 2. lékařská fakulta
- Somatic thrombopoietin (THPO) gene mutations in childhood myeloid leukemias2015 | 2. lékařská fakulta
- Re: Bladder Cancer Therapy Using a Conformationally Fluid Tumoricidal Peptide Complex Editorial Comment2022 | 2. lékařská fakulta