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Search for publications relevant for "genetic defect"
genetic defect
Publication
Class
Person
Publication
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publication
Genetic defects in common variable immunodeficiency
2007 |
Publication without faculty affiliation
publication
Genetic defects in common variable immunodeficiency
2007 |
First Faculty of Medicine
publication
Genetic defects in common variable immunodeficiency
+1
2007 |
Faculty of Medicine in Hradec Králové
publication
Genetic Defects of Cytochrome c Oxidase Assembly
+1
2003 |
First Faculty of Medicine
publication
Genetic Defects of Cytochrome c Oxidase Assembly
+1
2003 |
Faculty of Physical Education and Sport
publication
Mitochondrial diseases and genetic defects of ATP synthase
2006 |
First Faculty of Medicine
publication
Mitochondrial diseases and genetic defects of ATP synthase
2006 |
Faculty of Physical Education and Sport
publication
Isolated deficiency of mitochondrial ATP synthase caused by nuclear genetic defects
Publication without faculty affiliation
publication
FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide
2007 |
Second Faculty of Medicine
publication
Genetic defects in PI3K delta affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections
2017 |
Second Faculty of Medicine
publication
Genetics of limb defects I: Mirror´s foot - short communication
2004 |
Faculty of Physical Education and Sport
publication
Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary
2024 |
Second Faculty of Medicine
publication
Somatoform autonomic dysfunction or histamine intolerance due to genetic defect of diamine oxidase? From the phenomenological diagnosis of functional disorder to genetically determined clinical unit
2020 |
Publication without faculty affiliation
publication
Patient with kidney carcinoma
2017 |
First Faculty of Medicine
publication
Animal models DM
2009 |
First Faculty of Medicine
publication
Knockout of Tmem70 alters biogenesis of ATP synthase and leads to embryonal lethality in mice
2016 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Diagnostic importance of uric acid
2005 |
First Faculty of Medicine
publication
Pompe disease in dogs and in humans share the same genetic cause
2013 |
First Faculty of Medicine
publication
Purine and pyrimidine disorders
2014 |
First Faculty of Medicine
publication
Paediatric Andrology
2013 |
Second Faculty of Medicine
publication
Down's syndrome screening in the Czech republic
2008 |
First Faculty of Medicine, Central Library of Charles University
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
2012 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Array comparative genome hybridization in patients with developmental delay: two example cases
Publication without faculty affiliation
publication
Adenylosuccinate lyase deficiency in a Czech girl and two siblings
1994 |
Second Faculty of Medicine
publication
Diseases of the gastrointestinal tract in patients with primary immunodeficiency
2017 |
Faculty of Medicine in Hradec Králové
publication
Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations
2005 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Physical Education and Sport
publication
Diabetes in children and adolescents: Does enterovirus infection play a significant role?
2009 |
Second Faculty of Medicine