Longitudinal, comprehensive, clinical and genetic study of prenatal and postnatal development of patients and their families with the most serious inborn errors and inherited disorders.
Projects from the IBMG that are encompassed in the below 2.School of Medicine research projects:
Diagnosis of inborn and inherited glomerulal disorders
Improvement of reproductive genetics
Neurogenetic diagnosis of spinocerebellar ataxias and neurodegenerative disorders
Genotype-phenotype correlations in neuromuscular diseases with a genetic component
Molecular genetic diagnosis and prevention of thrombembolic conditions.
CFTR gene mutation analysis in human infertility, gastrointestinal and lung diseases of yet unknown etiology.
Differential diagnosis of familiar nephropathies: clinical and molecular genetic analyses
Genotype-phenotype correlations in microdeletion syndromes
Molecular genetic aspects of cell signaling in oncogenesis: the influence of tyrosinekinases on cell proliferation
Address: |
V Úvalu 84 150 06 Praha 5 |
Telephone: | +420224433501 |
Fax: | +420224433520 |
E-mail: | ublg@lfmotol.cuni.cz |
Web: | http://ublg.lf2.cuni.cz/english.html |
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