Magdalena Cabała

Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome

Magdalena Koczkowska, Jolanta Wierzba, Robert Śmigiel et al. · Journal of Applied Genetics · 2016 · 25 citations · Full text

Gene Deletion Data, Genetics, Pathology +20

Novel <i>COL4A1</i> mutation in an infant with severe dysmorphic syndrome with schizencephaly, periventricular calcifications, and cataract resembling congenital infection

Robert Śmigiel, Magdalena Cabała, Aleksandra Jakubiak et al. · Birth Defects Research Part A Clinical and Molecular Teratology · 2016 · 21 citations

Torch Infection, Genetics, Immunodeficiencies +24

Phenotype of two Polish patients with Schaaf–Yang syndrome confirmed by identifying mutation in MAGEL2 gene

Karolina Matuszewska, Magdalena Badura‐Stronka, Robert Śmigiel et al. · Clinical Dysmorphology · 2018 · 15 citations

Translation Studies, Polish Patients, Genetics +16