Kornelia Tripolszki - Centogene GmbH

基本信息

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职业迁徙

个人简介

Kornelia Tripolszki currently works at the Department of Medical Genetics, University of Szeged. Kornelia does research in Molecular Biology, Bioinformatics and Genetics. Their current project is 'Genetic analysis of amyotrophic lateral sclerosis in the Hungarian population.'

研究兴趣

论文共 38 篇作者统计合作学者相似作者

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Impact of Processed Pseudogene Insertions in Genetic Testing As Cause of Monogenic Diseases: Insertion in CLCN1 Gene Causing Myotonia Congenita

Kornelia Tripolszki,Javier Martini,Kapil Kampe,Vasiliki Karageorgou, Mohammad Al Muhaizea,Catarina Pereira, Stephanie Weissgraeber,Omid Paknia,Jorge Pinto Basto,Peter Bauer

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 524-525

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P614: the Clinical Genome: Validation Data Beyond Clinical Exome

Kornelia Tripolszki, Melina Bilinski, Matthias Bieg,Anett Marais,Catarina Pereira,Javier Martini, Mukunth Sadagopan, Divine Lawir Fondzenyuy, Swathi Chinnappa, Stephanie Weissgraeber, Thomas Hackenberg, Chris Junghans, Johannes Numrich,Krishna Kumar Kandaswamy,Jorge Pinto-Basto, Peter Bauer,Omid Paknia

Genetics in Medicine Open (2024): 101520

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A Pleiotropic Recurrent Dominant ITPR3 Variant Causes a Complex Multisystemic Disease