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Null alleles
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Characterization of null alleles of the human leukocyte antigens (HLA) complex
2004 |
Central Library of Charles University
publication
A novel HLA-A null allele (A*02:395N ) with stop codon in exon 2 generated by single nucleotide exchange
2013 |
Faculty of Medicine in Pilsen
publication
Shb null allele is inherited with a transmission ratio distortion and causes reduced viability in utero
2007 |
Second Faculty of Medicine
publication
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia
2020 |
First Faculty of Medicine
publication
The Technology of Digital PCR for Analysis of The Deletion Polymorphism in the GSTM1 Gene
2016 |
Faculty of Medicine in Hradec Králové, Faculty of Pharmacy in Hradec Králové
publication
Development of microsatellite markers for a diving duck, the common pochard (Aythya ferina)
2011 |
Faculty of Science
publication
Nuclear localization of ISWI ATPase Smarca5 (Snf2h) in mouse
2009 |
First Faculty of Medicine
publication
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)
2020 |
Second Faculty of Medicine
publication
Cross-species amplification of microsatellite markers in the invasive spiny-cheek crayfish (Orconectes limosus): assessment and application
2010 |
Faculty of Science
publication
Identification of 37 microsatellite loci for Anthophora plumipes (Hymenoptera: Apidae) using next generation sequencing and their utility in related species
2012 |
Faculty of Science
publication
Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease
2014 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Local population structure of Hymenoscyphus fraxineus surveyed by an enlarged set of microsatellite markers
2015 |
Faculty of Science
publication
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
2021 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Pitfalls of X-chromosome inactivation testing in females with Fabry disease
2022 |
First Faculty of Medicine
publication
Evolutionary Conserved Cysteines Function as cis-Acting Regulators of Arabidopsis PIN-FORMED 2 Distribution
2017 |
Faculty of Science, Central Library of Charles University
publication
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis
2019 |
First Faculty of Medicine, Third Faculty of Medicine
publication
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
2023 |
First Faculty of Medicine
publication
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing
2019 |
First Faculty of Medicine