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clinical phenotypes
Publication
Class
Person
Publication
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publication
Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
2022 |
Second Faculty of Medicine
publication
No Evidence for Linkage between the Hereditary Angiooedema Clinical Phenotype and the BDKR1, BDKR2, ACE or MBL2 gene.
2011 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: A clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes
2009 |
First Faculty of Medicine, Faculty of Medicine in Pilsen
publication
Chronic obstructive pulmonary disease - diagnosis and management of stable disease; a personalized approach to care, using the treatable traits concept based on clinical phenotypes. Position paper of the Czech Pneumological and Phthisiological Society
2020 |
Faculty of Medicine in Hradec Králové
publication
Chronic obstructive pulmonary disease - diagnosis and management of stable disease, a personalized approach to care, using the treatable traits concept based on clinical phenotypes
2023 |
Faculty of Medicine in Hradec Králové
publication
MODY in Ukraine: genes, clinical phenotypes and treatment
2017 |
Second Faculty of Medicine
publication
No evidence for linkage between the hereditary angiooedema clinical phenotype and the BDKRl,BDKR2, ACE or MBL2 gene.
2011 |
First Faculty of Medicine
publication
β-Amyloid and tau biomarkers and clinical phenotype in dementia with Lewy bodies
2020 |
Second Faculty of Medicine
publication
Cerebrovascular disease, neurodegeneration, and clinical phenotype in dementia with Lewy bodies
2021 |
Second Faculty of Medicine
publication
Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes
2014 |
Second Faculty of Medicine
publication
Clinical Phenotypes and Comorbidity in European Sleep Apnoea Patients
2016 |
First Faculty of Medicine
publication
Refining clinical phenotypes in septo-optic dysplasia based on MRI findings
2008 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
No Evidence for Linkage between the Hereditary Angiooedema Clinical Phenotype and the BDKR1, BDKR2, ACE or MBL2 gene
2011 |
Second Faculty of Medicine
publication
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
2015 |
Second Faculty of Medicine
publication
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
2015 |
First Faculty of Medicine
publication
Are high- and low-molecular-weight sensitizing agents associated with different clinical phenotypes of occupational asthma?
2019 |
First Faculty of Medicine
publication
Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease
2019 |
First Faculty of Medicine
publication
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
2003 |
First Faculty of Medicine
publication
CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene
2003 |
Faculty of Physical Education and Sport
publication
Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: A clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes
2009 |
Central Library of Charles University
publication
Deficiency of adenomatous polyposis coli protein in sporadic colorectal adenomas and its associations with clinical phenotype and histology
2006 |
First Faculty of Medicine
publication
Clinical Phenotype and Genotype of Children with Borderline Sweat Test and Abnormal Nasal Epithelial Chloride Transport
2010 |
Second Faculty of Medicine
publication
The Relation Between Clinical Phenotypes, GOLD Groups/Stages and Mortality in COPD Patients - A Prospective Multicenter Study
2021 |
Faculty of Medicine in Hradec Králové
publication
Chronic Obstructive Pulmonary Disease: Official diagnosis and treatment guidelines of the Czech Pneumological and Phthisiological Society; a novel phenotypic approach to COPD with patient-oriented care
2013 |
Faculty of Medicine in Hradec Králové
publication
Clinical phenotypes and prognostic features of embryonal tumours with multi-layered rosettes: a Rare Brain Tumor Registry study
2021 |
Central Library of Charles University
publication
45,X/46,X,psu dic(Y) Gonadal Dysgenesis: Influence of the Two Cell Lines on the Clinical Phenotype, Including Gonadal Histology
2013 |
Second Faculty of Medicine
publication
Cystathionine beta-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis
2021 |
First Faculty of Medicine, Faculty of Mathematics and Physics
publication
RETRO-POPE: A Retrospective, Multicenter, Real-World Study of All-Cause Mortality in COPD
2023 |
Faculty of Medicine in Hradec Králové
publication
FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases
2011 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Humanities
publication
Distribution of clinical phenotypes in a population of patients with severe chronic obstructive pulmonary disease (a pilot analysis of baseline data in a Czech multicenter research database of COPD)
2015 |
Central Library of Charles University, Second Faculty of Medicine, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine, Faculty of Pharmacy in Hradec Králové