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Abnormality
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Mgr. Petr Lněnička
External person at First Faculty of Medicine
15 publications
Publications
publication
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele
2013 |
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
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
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
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
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