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mutation screening
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Mgr. Petr Lněnička
External person at First Faculty of Medicine
15 publications
Publications
publication
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
2013 |
First Faculty of Medicine
publication
DNA Analysis of Renal Electrolyte Transporter Genes Among Patients Suffering from Bartter and Gitelman Syndromes - Summary of Mutation Screening
2011 |
First Faculty of Medicine
publication
Gitelman Syndrome as a Cause of Psychomotor Retardation in a Toddler
2013 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele
2013 |
First Faculty of Medicine
publication
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
2012 |
Faculty of Science, First Faculty of Medicine
publication
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis
2012 |
First Faculty of Medicine
publication
TRPC6 gene variants in Czech adult patients with focal segmental glomerulosclerosis and minimal change disease
2012 |
First Faculty of Medicine
publication
Gitelman syndrome: novel mutation and long-term follow-up
2012 |
First Faculty of Medicine
publication
Cryptic chromosomal rearrangements in children with idiopathic mental retardation in the czech population
2011 |
Faculty of Science, First Faculty of Medicine
publication
Cryptic Chromosomal Rearrangements in Children with Idiopathic Mental Retardation in the Czech Population
2011 |
First Faculty of Medicine
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