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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)

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|Jan 21, 2023

The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.

Valery Zayat, Zuzanna Kuczynska, Michal Liput

|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

<i>WDR13</i>: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

Sylwia Rzońca-Niewczas, Jolanta Wierzba, Ewa Kaczorowska

|Apr 30, 2021

The <i>MED13L</i> haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Paweł Gawliński

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Frequent Collaborators

3 joint publications

Rafał Płoski

2 joint publications

Mateusz Dawidziuk

2 joint publications

Paweł Gawliński

2 joint publications

Wojciech Wiszniewski

2 joint publications

Dorota Hoffman-Zacharska

1 joint publications

Anna Kutkowska-Kaźmierczak

1 joint publications

Monika Gos

1 joint publications

Piotr Stawiński

1 joint publications

Leonora Buzanska

1 joint publications

Joanna Kosińska

Frequent Collaborators

3 joint publications

Rafał Płoski

2 joint publications

Mateusz Dawidziuk

2 joint publications

Paweł Gawliński

2 joint publications

Wojciech Wiszniewski

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