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Regina Kubica | Researchclopedia

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Regina Kubica

3

Works

169

Citations

1

h-index

1

i10-index

Research Topics

Genomics and Chromatin Dynamics Skin and Cellular Biology Research DNA and Nucleic Acid Chemistry

Affiliations

University of Duisburg-Essen2019–2025

Top Works

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Rahel T. Florian,Florian Kraft,et al.

2019169 citations

Genomic variations and chromosomal abnormalities

Genetics and Neurodevelopmental Disorders

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype

Ilaria Parenti,Alina Hesters,et al.

20260 citations

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype

Ilaria Parenti,Alina Hesters,et al.

20250 citations

<i>MYCN</i> Amplification in <i>RB1</i> ‐Inactivated Retinoblastoma: Association With High‐Risk Features

Kyriaki Papaioannou,Regina Kubica,et al.

20260 citations