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DNA diagnosis
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Laboratory procedures in DNA diagnosis of human diseases
1994 |
Second Faculty of Medicine
publication
DNA diagnosis of the fragile X chromosome syndrome - FRAXA using PCR
1998 |
Second Faculty of Medicine
publication
Familial Adenomatous Polyposis III. Ddirect DNA Diagnosis.
1997 |
Faculty of Physical Education and Sport
publication
Familial Adenomatous Polyposis I. Indirect DNA Diagnosis by Means of RFLP and PCR.
1997 |
Faculty of Physical Education and Sport
publication
Familial Adenomatous Polyposis II. Inddirect DNA Diagnosis by Means Microsatellite Markers.
1997 |
Faculty of Physical Education and Sport
publication
DNA Diagnosis and Clinical Manifestations of Autosomal Dominant Polycystic Kidney Disease.
1997 |
Faculty of Physical Education and Sport
publication
DNA diagnosis and clinical manifestations of autosomal dominant polycystic kidney disease in czech population
1997 |
Faculty of Physical Education and Sport
publication
Molecular biology in medicine
2007 |
Second Faculty of Medicine
publication
Lynch syndrome - Contribution of molecular genetics to the diagnosis of patients not meeting the ICG Amsterdam criteria
2003 |
Third Faculty of Medicine
publication
Plasma cell-free DNA methylation analysis for ovarian cancer detection: Analysis of samples from a case-control study and an ovarian cancer screening trial
2024 |
First Faculty of Medicine
publication
Minimally invasive classification of paediatric solid tumours using reduced representation bisulphite sequencing of cell-free DNA: a proof-of-principle study
2021 |
Publication without faculty affiliation
publication
Leishmania parasite detection and quantification using PCR-ELISA
2010 |
Faculty of Science, Central Library of Charles University
publication
Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene
2001 |
First Faculty of Medicine
publication
Molecular Diagnosis of Rett Syndrome: Detection of the Prevalent Mutations in MeCP2 Gene
2001 |
Faculty of Physical Education and Sport
publication
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
2009 |
First Faculty of Medicine
publication
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
2009 |
Publication without faculty affiliation
publication
Deep neck abscesses in children - part 1
2009 |
Publication without faculty affiliation
publication
Deep neck abscesses in children - part 2
2009 |
Publication without faculty affiliation
publication
Deep neck abscesses in children - part 1
2009 |
Faculty of Medicine in Hradec Králové
publication
Deep neck abscesses in children - part 2
2009 |
Faculty of Medicine in Hradec Králové
publication
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease
2009 |
First Faculty of Medicine
publication
Importance of posterior column signs for differential diagnosis of hereditary ataxias
2013 |
Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
The Importance of Posterior Column Signs for Differential Diagnosis of Hereditary Ataxias
2013 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Rett Syndrome
2009 |
First Faculty of Medicine
publication
Genetics of hypertrophic cardiomyopathy
2008 |
Publication without faculty affiliation
publication
EuroGentest: an EU-funded Project for Harmonisation and Improvement of the Quality of Genetic Services
2007 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G > A (p.Glu92Lys, E92K) mutations in North Caucasus
2019 |
Second Faculty of Medicine
publication
Charcot-Marie-Tooth 1 (CMT1) and tomaculous neuropathy (HNPP) - Evidence of specific DNA duplications and deletions in the area of 17p11.2-12 by means of a set of dinucleotide markers
1999 |
Second Faculty of Medicine