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Wēś
Publication
Class
Person
Publication
Programmes
publication
NFKB2 Mutation Diagnosed by Whole Exome Sequencing (WES) in a Patient with Complex Phenotype and Hypogammaglobulinemia
2019 |
Second Faculty of Medicine
publication
Převod materiálů do WS
Publication without faculty affiliation
publication
The efficacy and safety of Crataegus extract WS 1442 in patients with heart failure: The SPICE trial
2008 |
Publication without faculty affiliation
publication
The metodology of wes- based educational simulators development
Publication without faculty affiliation
publication
The Eurasianism concept: Russian vs Wes-tern perspectives
2020 |
Faculty of Arts, Faculty of Humanities
publication
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
2020 |
First Faculty of Medicine
publication
Whole-Exome Sequencing in Czech Patients with Neurogenetic Diseases
2020 |
Second Faculty of Medicine
publication
Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders
2023 |
First Faculty of Medicine
publication
Recommendations for whole genome sequencing in diagnostics for rare diseases
2022 |
Second Faculty of Medicine
publication
Compression of a Dictionary
2006 |
Faculty of Mathematics and Physics
publication
Transforming Data from DataPile Structure into RDF
2006 |
Faculty of Mathematics and Physics
publication
On the Potential Transformation of English Textbooks - A Global Perspective: Part 1
2013 |
Faculty of Arts
publication
Matching Medical Websites to Medical Guidelines through Clinical Vocabularies
2014 |
Faculty of Physical Education and Sport
publication
Mutual alteration of NOD2-associated Blau syndrome and IFN gamma R1 deficiency
2020 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Development of Greek Religious Iconography in Early Kushan Coinage: Adaptation, Integration and Transformation
2023 |
Faculty of Arts
publication
Localization of double bonds in wax esters by high-performance liquid chromatography/atmospheric pressure chemical ionization mass spectrometry utilizing the fragmentation of acetonitrile-related adducts
2011 |
Faculty of Science
publication
Exome sequencing for identification of disease genes for rare syndromes. Experiences from Hamburg
2014 |
Second Faculty of Medicine
publication
Characterization of natural wax esters by MALDI-TOF mass spectrometry
2009 |
Central Library of Charles University
publication
Complex approach towards patients with hypertrophic cardiomyopathy and indications to genetic testing
2020 |
Second Faculty of Medicine, Central Library of Charles University
publication
Structural characterization of wax esters by electron ionization mass spectrometry
2012 |
Faculty of Science
publication
Analysis of wax esters by silver-ion high-performance liquid chromatography-tandem mass spectrometry
2013 |
Faculty of Science
publication
CORROSION BEHAVIOR OF BIODEGRADABLE MG ALLOYS IN EMEM MEDIUM
2011 |
Faculty of Mathematics and Physics
publication
SOXopathies and dystonia: Consolidation of a recurrent association
2024 |
First Faculty of Medicine
publication
Novel de novo pathogenic variant in the GNAI1 gene as a cause of severe disorders of intellectual development
2022 |
Second Faculty of Medicine
publication
Scoring Algorithm-Based Genomic Testing in Dystonia: A Prospective Validation Study
2021 |
First Faculty of Medicine
publication
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
2021 |
Second Faculty of Medicine
publication
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME
2020 |
Second Faculty of Medicine
publication
Genetic Testing for Malformations of Cortical Development
2022 |
Second Faculty of Medicine
publication
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel
2024 |
Second Faculty of Medicine
publication
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates
2019 |
First Faculty of Medicine