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Search for publications relevant for "Genetic heterogeneity"
Genetic heterogeneity
Publication
Class
Person
Publication
Programmes
publication
Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?
2021 |
First Faculty of Medicine
publication
Genetic heterogeneity in infantile spasms
2019 |
Second Faculty of Medicine
publication
Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity
2021 |
Second Faculty of Medicine
publication
Genetic heterogeneity of megacystis-microcolon-intestinal hypoperistalsis syndrome
Publication without faculty affiliation
publication
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
2006 |
First Faculty of Medicine
publication
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies
2008 |
Second Faculty of Medicine
publication
Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity
2001 |
Central Library of Charles University
publication
Integrative analysis of type-I and type-II aberrations underscores the genetic heterogeneity of pediatric acute myeloid leukemia
2011 |
First Faculty of Medicine
publication
Integrative analysis of type-I and type-II aberrations underscores the genetic heterogeneity of pediatric acute myeloid leukemia
2011 |
Second Faculty of Medicine
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16P11. 2 and evidence for genetic heterogenity
Publication without faculty affiliation
publication
DNA cloning demonstrates high genetic heterogeneity in populations of the subaerial green alga Trentepohlia (Trentepohliales, Chlorophyta)
2019 |
Faculty of Science
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16P11. 2 and evidence fo genetic heterogeneity (1)
Publication without faculty affiliation
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16p11. 2-and evidence for genetic heterogenity (3)
2000 |
First Faculty of Medicine
publication
Long-term provisional rehabilitation of amelogenesis imperfecta.
Publication without faculty affiliation
publication
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing
2017 |
First Faculty of Medicine
publication
HLA in Czech adult patients with autoimmune diabetes mellitus: comparsion with Czech children with type 1 diabetes and patients type 2 diabetes
2003 |
Third Faculty of Medicine
publication
Genetics of neurodevelopmental disorders
2021 |
Second Faculty of Medicine
publication
Carney complex
2011 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Genetic principle of Alzheimer's disease and possibility of its prediction
2008 |
Publication without faculty affiliation
publication
Surgical Treatment of Congenital Cleft Foot - Case Study and Literature Review
2020 |
Faculty of Medicine in Hradec Králové
publication
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) pregnancy in a patient with GnRH receptor mutations
2000 |
Faculty of Medicine in Pilsen
publication
Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts
2017 |
First Faculty of Medicine
publication
Pheochromocytoma
2013 |
First Faculty of Medicine
publication
Introduction of molecular genetic diagnosis in syndromes with a hearing defect
1998 |
Second Faculty of Medicine
publication
Clinical and biochemical characterization of syndromes associated with defects of the insulin receptor
1992 |
Second Faculty of Medicine
publication
Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome
2021 |
Faculty of Medicine in Hradec Králové
publication
Next generation sequencing and its application in the diagnostics of neuromuscular diseases
2021 |
Second Faculty of Medicine
publication
Strategy of treatment of metastatic non-small-cell lung cancer - squamous cell carcinoma
2016 |
First Faculty of Medicine
publication
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
2012 |
First Faculty of Medicine
publication
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract
2020 |
First Faculty of Medicine