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Cell therapy of a patient with type III <i>osteogenesis imperfecta</i> caused by mutation in <i>COL1A2</i> gene and unstable collagen type I

Circadian blood pressure profiles and ambulatory arterial stiffness index in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes

artículo científico publicado en 2017

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly

Intima media thickness of common carotids and abdominal aorta in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in relation to their genotypes

artículo científico publicado en 2017

Mutations in the COL1A1 and COL1A2 genes associated with osteogenesis imperfecta (OI) types I or III

artículo científico publicado en 2018

Novel pathogenic variant in the HRAS gene with lethal outcome and a broad phenotypic spectrum among Polish patients with Costello syndrome

artículo científico publicado en 2016

Nowa mutacja (p. Leu700Phe) w genie receptora androgenowego – opis spokrewnionych pacjentek z wczesnym rozpoznaniem zespołu całkowitej niewrażliwości na androgeny

artículo científico publicado en 2015

The role of polymorphisms of genes encoding collagen IX and XI in lumbar disc disease

artículo científico

[Fetal CD34+ cells isolated from maternal blood and cytogenetics array as potential tools in screening, non-invasive prenatal diagnosis--preliminary research]

artículo científico publicado en 2011

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