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phenotype correlation
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Genotype-phenotype correlation in 44 Czech, Slovak, Croatian and Serbian patients with mucopolysaccharidosis type II
2017 |
First Faculty of Medicine
publication
Genotype-phenotype correlation in cases of juvenile myelomonocytic leukemia with clonal RAS mutations
2008 |
Second Faculty of Medicine
publication
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
2006 |
Second Faculty of Medicine
publication
A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype-phenotype correlations, relevance for newborn screening and genetic testing
2010 |
Second Faculty of Medicine
publication
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
1998 |
Second Faculty of Medicine
publication
Genotype/phenotype correlations in neuromuscular disorders
1998 |
Second Faculty of Medicine
publication
Genotype/phenotype correlations in DMD/BMD and HMSN
1998 |
Second Faculty of Medicine
publication
Genotype/Phenotype Correlation in Nephrotic Syndrome Caused by WT1 Mutations
2010 |
Second Faculty of Medicine
publication
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
2020 |
Second Faculty of Medicine
publication
Genotype/phenotype correlation in Czech tuberous sclerosis patients
2016 |
Second Faculty of Medicine
publication
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
2022 |
Second Faculty of Medicine
publication
Genotype-phenotype correlation in children with autosomal dominant polycystic kidney disease
2009 |
Second Faculty of Medicine
publication
Genotype-phenotype correlation in children with mutations in SCO2 and a novel mutation 1518delA
Publication without faculty affiliation
publication
Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion
2005 |
Second Faculty of Medicine
publication
Genotype–phenotype correlation in children with autosomal dominant polycystic kidney disease
2009 |
First Faculty of Medicine
publication
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics
2001 |
Faculty of Medicine in Pilsen
publication
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
2021 |
Second Faculty of Medicine
publication
Kal gene novel mutations in idiopathic hypogonadotropic hypogonadism (IHH): genotype-phenotype correlations
2000 |
Faculty of Medicine in Pilsen
publication
Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations
2013 |
Third Faculty of Medicine
publication
SNP Array and Phenotype Correlation Shows That FLI1 Deletion Per se is Not Responsible for Thrombocytopenia Development in Jacobsen Syndrome
2012 |
Publication without faculty affiliation
publication
Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation
2011 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Niemann-Pick diesease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
2001 |
First Faculty of Medicine
publication
Long-term follow-up of Wilson Disease: natural history, treatment, mutations analysis and phenotypic correlation
2011 |
Second Faculty of Medicine
publication
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype–phenotype correlation
2023 |
Second Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery
2019 |
Second Faculty of Medicine
publication
Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing
2012 |
First Faculty of Medicine
publication
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study
2008 |
Second Faculty of Medicine
publication
Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing
2012 |
Second Faculty of Medicine
publication
Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing
Publication without faculty affiliation