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DNA diagnostics
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SEKK - DNA diagnostics
1999 |
Publication without faculty affiliation
publication
DNA diagnostics of Friedrich's ataxia
1997 |
Second Faculty of Medicine
publication
Amultimedial tutorial text of the DNA diagnostics on the CD-ROM
Publication without faculty affiliation
publication
Amultimedia tutorial text of the DNA diagnostics on the CD-ROM
1998 |
Second Faculty of Medicine, Central Library of Charles University
publication
Current Diagnostic Strategies and Overview of Preimplantation, Prenatal and Postnatal DNA Diagnostics of Cystic Fibrosis in the Czech Republic
2008 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
EuroGentest: an EU-funded Project for Harmonisation and Improvement of the Quality of Genetic Services
2007 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Autosomal dominant spinocerebellar ataxias
2007 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Circulating nucleic acids as a new diagnostic tool
2010 |
Central Library of Charles University
publication
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic
2017 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Patenting and licensing in genetic testing - Recommendations of the European Society of Human Genetics
2008 |
Second Faculty of Medicine
publication
Patenting and licensing in genetic testing
2008 |
Second Faculty of Medicine
publication
Autosomal recessive and X-linked ataxia
2007 |
Second Faculty of Medicine
publication
Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis
2011 |
Second Faculty of Medicine
publication
Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene
2009 |
Second Faculty of Medicine
publication
Patenting and licensing in genetic testing: ethical, legal and social issues
2008 |
Second Faculty of Medicine
publication
A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype-phenotype correlations, relevance for newborn screening and genetic testing
2010 |
Second Faculty of Medicine
publication
Instructions for practical course in the 2nd year of study
Publication without faculty affiliation
publication
Medical chemistry and biochemistry. Practical lessons III.
2004 |
First Faculty of Medicine
publication
Equipment of student laboratory for training in molecular techniques. Final report FRVŠ 896/2004
Publication without faculty affiliation
publication
Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories
2009 |
Second Faculty of Medicine
publication
Syndromes of chromosomal instability
2014 |
Second Faculty of Medicine
publication
The first external quality control assessment of cytomegalovirus DNA detection by polymerase chain reaction in the Czech Republic
2010 |
Faculty of Medicine in Hradec Králové
publication
First cases in the Czech Republic of the Hallervorden-Spatz Disease resulting from mutation in the Pantothenate Kinase 2 Gene
2005 |
Second Faculty of Medicine
publication
Friedreich's ataxia
2005 |
Second Faculty of Medicine
publication
A Newly Observed Mutation of the ABCA3 Gene Causing Lethal Respiratory Failure of a Full-Term Newborn: A Case Report
2020 |
First Faculty of Medicine
publication
Distribution of CFTR mutations in the Czech population: Positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations
2013 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
2009 |
Second Faculty of Medicine
publication
Familial chylomicronemia: pathogenesis, clinical manifestations and case study
2018 |
First Faculty of Medicine
publication
Determination of specific DNA of Borrelia burgdorferi in urine of patients with Lyme borreliosis (LB)
2000 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene
2016 |
Second Faculty of Medicine