Natalia Bezniakow

The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes.

Natalia Bezniakow, Monika Goś, Ewa Obersztyn · PubMed · 2014 · 50 citations

Medicine, Genetics, Molecular Genetics +17

Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability

Magdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska et al. · Journal of Applied Genetics · 2013 · 44 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Wojciech Wiszniewski, Paweł Gawliński, Tomasz Gambin et al. · European Journal of Human Genetics · 2018 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations

Robert Śmigiel, Natalia Bezniakow, Aleksandra Jakubiak et al. · Journal of Applied Genetics · 2014 · 25 citations

Life Sciences, Genetics, Speech-language Pathology +12

The usefulness of array comparative genomic hybridization in clinical diagnostics of intellectual disability in children.

Magdalena Bartnik, Barbara Wiśniowiecka‐Kowalnik, Beata Nowakowska et al. · PubMed · 2014 · 22 citations

Life Sciences, Genetics, Molecular Genetics +17