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Search for publications relevant for "trinucleotide repeat"
trinucleotide repeat
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publication
Trinucleotide Repeat Expansions and Human Genetic Disease
1995 |
Central Library of Charles University, Second Faculty of Medicine
publication
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
2021 |
First Faculty of Medicine
publication
Should Patients with Kearns -Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat,Commonly Associated with Fuchs Endothelial Corneal Dystrophy
2021 |
First Faculty of Medicine
publication
SCA2 trinucleotide expansion in German SCA patients
1997 |
Second Faculty of Medicine
publication
Spinocerebellar Ataxias Type 8, 12, and 17 and Dentatorubro-Pallidoluysian Atrophy in Czech Ataxic Patients
2013 |
First Faculty of Medicine, Central Library of Charles University, Second Faculty of Medicine
publication
Identification of novel informative loci for DNA-based X-inactivation analysis
2015 |
First Faculty of Medicine
publication
NOTCH2NLC CGG Repeats Are Not Expanded and Skin Biopsy Was Negative in an Infantile Patient With Neuronal Intranuclear Inclusion Disease
2020 |
First Faculty of Medicine, Third Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity
2018 |
First Faculty of Medicine
publication
Oculopharyngeal muscular dystrophy in the population of the Czech Republic
2013 |
Second Faculty of Medicine
publication
The Number of CAG Repeats Within the Normal Allele Does Not Influence the Age of Onset in Huntington's Disease
2011 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Correlation between Relaxometry and Diffusion Tensor Imaging in the Globus Pallidus of Huntington's Disease Patients
2015 |
First Faculty of Medicine, Central Library of Charles University, Third Faculty of Medicine
publication
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
2017 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Highly Unstable Sequence Interruptions of the CTG Repeat in the Myotonic Dystrophy Gene
2009 |
Second Faculty of Medicine
publication
Huntington's Disease
2010 |
First Faculty of Medicine
publication
Can ataxin-2 be down-regulated by allele-specific de novo DNA methylation in SCA2 patients?
2004 |
Second Faculty of Medicine
publication
Fluorescent multiplex PCR: Fast method for autosomal dominant spinocerebellar ataxias screening
2005 |
Second Faculty of Medicine
publication
Fluorescence-based automated fragment analysis of microsatellite polymorphism within the transmembrane region of the MIC-A gene
2004 |
Third Faculty of Medicine
publication
Fluorescence-based automated fragment analysis of microsatellite polymorphism within the transmembrane region of the MIC-A gene
2004 |
Central Library of Charles University
publication
Myotonic dystrophies
2012 |
Second Faculty of Medicine
publication
Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1
2005 |
Third Faculty of Medicine
publication
SCA6 is caused by moderate CAG expansion in the alpha(1A)-voltage-dependent calcium channel gene
1997 |
Second Faculty of Medicine
publication
Genetic Study of Twenty Patients with Autism Spectrum Disorders
2002 |
Second Faculty of Medicine