Aleksandra Jakubiak

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Active since

2010

Affiliations

Aleksandra Jakubiak is an author at Wroclaw Medical University specializing in molecular diagnostic techniques, viral pathogenesis, and ophthalmology.

Top concepts

GeneticsMedicineVirologyPathologyImmunologyPediatricsPathogenesisHerpesvirusesNeurovirologyOphthalmology

Publications per year

2010–2016

Publications

Novel frameshifting mutations of the <i>ZMPSTE24</i> gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature

Robert Śmigiel, Aleksandra Jakubiak, Vera Esteves‐Vieira et al. · American Journal of Medical Genetics Part A · 2010 · 48 citations

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

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