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Genetic screening
Publication
Class
Person
Publication
Programmes
publication
Genetic screening in adolescents with steroid-resistant nephrotic syndrome
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Clinical genetic and molecular genetic screening of fraXa and fraXe
1995 |
Central Library of Charles University, Second Faculty of Medicine
publication
Hypospadia
2016 |
Publication without faculty affiliation
publication
Genetic screening of patients for mutations in sarcomeric genes resposible for hypertrophic cardiomyopathy, prelminary results
Publication without faculty affiliation
publication
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene
2012 |
First Faculty of Medicine, Faculty of Science, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Cystathionine beta-synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles
2001 |
First Faculty of Medicine
publication
Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene
2012 |
Second Faculty of Medicine
publication
Postmortem genetic testing in sudden cardiac death victims and genetic screening of relatives at risk in the Czech Republic
2023 |
First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Second Faculty of Medicine
publication
Post-mortem genetic testing in sudden cardiac death and genetic screening of relatives at risk: lessons learned from a Czech pilot multidisciplinary study
2023 |
First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Physical Education and Sport, Second Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Factor V Leiden mutation and lethal pulmonary embolism in a young female taking oral contraceptives. Case report and post mortem genetic screening discussion
2003 |
Faculty of Medicine in Hradec Králové
publication
Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation
Publication without faculty affiliation
publication
Combination of HLA-DQ2/-DQ8 Haplotypes and a Single MSH5 Gene Variant in a Polish Population of Patients with Type 1 Diabetes as a First Line Screening for Celiac Disease?
2022 |
Faculty of Medicine in Pilsen
publication
The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population
2009 |
First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
European Association of Urology Guidelines on Upper Urinary Tract Urothelial Carcinoma: 2023 Update
2023 |
First Faculty of Medicine
publication
Multiple Endocrine Ne oplasi a Type 2 Syndrome
2009 |
Central Library of Charles University, Second Faculty of Medicine
publication
Genetics and clinical manifestation of syndrome of generalised epilepsy with febrile seizures (GEFS+)
Publication without faculty affiliation
publication
A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease
2005 |
Second Faculty of Medicine
publication
A Sudden Cardiac Death at the Child Age
2005 |
Second Faculty of Medicine
publication
A novel nonsense mutation in the β-subunit of the epithelial sodium channel causing Liddle syndrome
2021 |
Faculty of Medicine in Pilsen
publication
Serum Levels of Matrix Metalloproteinases 2 and 9 and TGFBR2 Gene Screening in Patients with Ascending Aortic Dilatation
2013 |
First Faculty of Medicine, Faculty of Science, Faculty of Mathematics and Physics
publication
DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes - Summary of Mutation Screening
2011 |
First Faculty of Medicine
publication
Current issues of assisted reproduction in the Czech Republic
2013 |
First Faculty of Medicine, Central Library of Charles University
publication
Fluorescent multiplex PCR: Fast method for autosomal dominant spinocerebellar ataxias screening
2005 |
Second Faculty of Medicine
publication
Naïve T Cell Homeostasis Regulated by Stress Responses and TCR Signaling
2015 |
Third Faculty of Medicine
publication
Conserved roles of C. elegans and human MANFs in sulfatide binding and cytoprotection
2018 |
First Faculty of Medicine
publication
Hirschsprung's disease and its genetic cause
2013 |
Faculty of Science, Second Faculty of Medicine
publication
Screening for the IDDM high-risk genotype. A rapid microtitre plate method using serum as source of DNA
2000 |
Second Faculty of Medicine
publication
Hereditary thyroid carcinoma and its molecular diagnostics
2014 |
Central Library of Charles University
publication
Current issues of reproductive medicine in the Czech Republic
2016 |
First Faculty of Medicine
publication
A mutation in the SAA1 promoter causes hereditary amyloid A amyloidosis
2022 |
First Faculty of Medicine, Third Faculty of Medicine