Sylwia Rzońca-Niewczas

7PUBLICATIONS
53CO-AUTHORS
Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Nonlinear optics and spectroscopyGene mappingGene and molecular therapy
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Publications (7)

|Nov 26, 2022
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Emanuela Leonardi, Maria Cristina Aspromonte, Denise Drongitis

|Sep 20, 2022
Destabilization of mutated human PUS3 protein causes intellectual disability.

Ting-Yu Lin, Robert Smigiel, Bozena Kuzniewska

|Jul 09, 2022
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Lukasz M Milanowski, Xu Hou, Jenny M Bredenberg

|Dec 24, 2021
WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

Sylwia Rzońca-Niewczas, Jolanta Wierzba, Ewa Kaczorowska

|Apr 30, 2021
The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński

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