Agnieszka Koppolu

3PUBLICATIONS
13CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesGene mapping
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Publications (3)

|Feb 03, 2022
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.

Małgorzata Rydzanicz, Wojciech Glinkowski, Anna Walczak

|Mar 14, 2020
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

Krzysztof Szczałuba, Hanna Mierzewska, Robert Śmigiel

|Jul 30, 2019
FARSA mutations mimic phenylalanyl-tRNA synthetase deficiency caused by FARSB defects.

Katarzyna Krenke, Krzysztof Szczałuba, Teresa Bielecka

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