ℹ️
🇬🇧
Search
Search for publications relevant for "genotype-phenotype"
genotype-phenotype
Publication
Class
Person
Publication
Programmes
publication
Genotype/phenotype correlations in DMD/BMD and HMSN
1998 |
Second Faculty of Medicine
publication
Hyperphenylalaninemia in the Czech Republic: Genotype-phenotype correlations and in silico analysis of novel missense mutations
2013 |
Third Faculty of Medicine
publication
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
Genotype-phenotype associations in WT1 glomerulopathy
2014 |
Second Faculty of Medicine
publication
Correlation of genotype, phenotype and mitochondrial metabolism of patients with Friedreich's ataxia with the aim of implementing innovative therapies
2022 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
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 relationships in Berardinelli-Seip congenital lipodystrophy
2002 |
Second Faculty of Medicine
publication
Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
2013 |
Second Faculty of Medicine
publication
Genotype phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
2013 |
Publication without faculty affiliation
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
Niemann-Pick diesease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
2001 |
First Faculty of Medicine
publication
Correlation genotype-phenotype in patients with congenital adrenal hyperplasia
2000 |
Central Library of Charles University, 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
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
2018 |
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
Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
2005 |
Third Faculty of Medicine
publication
Kal gene novel mutations in idiopathic hypogonadotropic hypogonadism (IHH): genotype-phenotype correlations
2000 |
Faculty of Medicine in Pilsen
publication
Genetic polymorphism of cytochrome P450 - practical implictions in pharmacotherapy
2008 |
Central Library of Charles University
publication
First genotype-phenotype study reveals HLA-DQ beta 1 insertion heterogeneity in high-resolution manometry achalasia subtypes
2019 |
Central Library of Charles University, First Faculty of Medicine