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large deletion
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publication
Expanze v genu FMR1, velká delece na Xp a zešikmená X-inaktivace u dívky s mentální retardací a autismem
2010 |
1. lékařská fakulta
publication
Identification of two compound heterozygous VPS13A large deletions in chorea-acanthocytosis only by protein and quantitative DNA analysis
2020 |
1. lékařská fakulta
publication
Germline mutations and large deletions of the APC gene in Czech FAP patients
Publikace bez příslušnosti k fakultě
publication
FMR1 Gene Expansion, Large Deletion of Xp, and Skewed X-Inactivation in a Girl With Mental Retardation and Autism
2010 |
2. lékařská fakulta
publication
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
2018 |
2. lékařská fakulta
publication
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families
2013 |
1. lékařská fakulta
publication
SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia
2016 |
2. lékařská fakulta
publication
Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis
2012 |
Lékařská fakulta v Plzni, 2. lékařská fakulta
publication
Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms
2007 |
2. lékařská fakulta
publication
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
2013 |
1. lékařská fakulta
publication
Novel mutations in the NF1 gene in Czech patients with neurofibromatosis type 1
2007 |
2. lékařská fakulta
publication
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
2014 |
1. lékařská fakulta
publication
Fukutinopatie jako vzácná příčina dilatační kardiomyopatie a frustní myopatie kosterního svalu - kazuistika a rozbor problematiky srdečního postižení v rámci svalových onemocnění
2022 |
1. lékařská fakulta, 3. lékařská fakulta, Ústřední knihovna
publication
Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients
2011 |
2. lékařská fakulta, 1. lékařská fakulta
publication
Characterisation of ATM Mutations in Slavic Ataxia Telangiectasia Patients
2011 |
2. lékařská fakulta
publication
Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3
2016 |
2. lékařská fakulta, 1. lékařská fakulta
publication
Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
2017 |
1. lékařská fakulta
publication
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
2020 |
1. lékařská fakulta
publication
Frequent Chromatin Rearrangements in Myelodysplastic Syndromes - What Stands Behind?
2014 |
1. lékařská fakulta
publication
Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
2020 |
Ústřední knihovna
publication
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma
2014 |
Lékařská fakulta v Plzni
publication
Low incidence of factor VIII inhibitors in previously untreated patients during prophylaxis, on-demand treatment and surgical procedures, with Octanate (R): interim report from an ongoing prospective clinical study
2011 |
2. lékařská fakulta
publication
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease
2014 |
1. lékařská fakulta
publication
The prevalence of genetic variations in patients with hypertrophic and dilated cardiomyopathy
Publikace bez příslušnosti k fakultě
publication
Giant angiofibromas in tuberous sclerosis complex: A possible role for localized lymphedema in their pathogenesis
2012 |
2. lékařská fakulta
publication
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone
2012 |
2. lékařská fakulta, 3. lékařská fakulta
publication
Low incidence of factor VIII inhibitors in previously untreated patients with severe haemophilia A treated with octanate((R)): Final report from a prospective study
2018 |
2. lékařská fakulta