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genetic disease
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publication
Frequently genetical diseases of CNS in childhood
2006 |
First Faculty of Medicine
publication
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
2017 |
Second Faculty of Medicine
publication
Trinucleotide Repeat Expansions and Human Genetic Disease
1995 |
Central Library of Charles University, Second Faculty of Medicine
publication
Molecular basis and modern therapeutic possibilities of genetic diseases - Cystic fibrosis as a model
2000 |
Second Faculty of Medicine
publication
The role of genetics in early postnatal care with a focus on VVV
2017 |
Second Faculty of Medicine
publication
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
2023 |
First Faculty of Medicine
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
2021 |
First Faculty of Medicine
publication
Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy
2022 |
First Faculty of Medicine
publication
A single-gene cause in 29,5 % of cases of steroid-resistant nephrotic syndrom
2015 |
Faculty of Medicine in Hradec Králové
publication
Mitochondrial Neurogastrointestinal Encephalomyopathy Imitating Crohn's Disease: A Rare Cause of Malnutrition
2018 |
Publication without faculty affiliation
publication
Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits
2010 |
First Faculty of Medicine
publication
Laboratory genetic examination in pediatrics
2007 |
Second Faculty of Medicine
publication
Approach to patiens with primary ciliary dyskinesia
2010 |
Publication without faculty affiliation
publication
Basics of clinical genetics for pediatricians
2014 |
Second Faculty of Medicine
publication
Syndrome of the head-neck
2011 |
First Faculty of Medicine
publication
Psychoonkology in practic (psychoeducation, advice and therapy)
2011 |
First Faculty of Medicine
publication
The cause of death of neural cells in ataxia telangiectasia
2014 |
First Faculty of Medicine
publication
Genetics in internal medicine.
2011 |
First Faculty of Medicine
publication
Preterm newborn with lethal congenital contracture syndrome
2021 |
Publication without faculty affiliation
publication
Modulating genes in CF and COPD disease
Publication without faculty affiliation
publication
Family anamnesis relevance in pediatric oncolg care
2016 |
Faculty of Medicine in Pilsen
publication
Hereditary haemochromatosis caused by homozygous HJV mutation evolved through paternal disomy
2015 |
First Faculty of Medicine, Central Library of Charles University
publication
Cystic fibrosis
2021 |
Second Faculty of Medicine
publication
Classification and genetics of cardiomyopathies
2011 |
Publication without faculty affiliation
publication
Autosomal recessive and X-linked ataxia
2007 |
Second Faculty of Medicine
publication
(Summary of the 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Prepared by the Czech Society of Cardiology
2015 |
Faculty of Medicine in Hradec Králové
publication
Risk factors for tumors or leukemia development in the first two years of life
2023 |
Publication without faculty affiliation
publication
Salty Children: What Is Life with Cystic Fibrosis Like?
2015 |
Faculty of Science
publication
Prenatal Genetic Care: New possibilities for prenatal detection of developmental defects
2017 |
Second Faculty of Medicine