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Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Front Genet. 2024 Jan 5;14:1300952. doi: 10.3389/fgene.2023.1300952. eCollection 2023.
Front Genet. 2024.
PMID: 38250573
Free PMC article.
Clinical presentation of 13 children with alkaptonuria.
Kujawa MJ, Świętoń D, Wierzba J, Grzywińska M, Budziło O, Limanówka M, Pierzynowska K, Gaffke L, Grabowski Ł, Cyske Z, Rintz E, Rąbalski Ł, Kosiński M, Węgrzyn G, Mański A, Anikiej-Wiczenbach P, Ranganath L, Piskunowicz M.
Kujawa MJ, et al. Among authors: limanowka m.
J Inherit Metab Dis. 2023 Sep;46(5):916-930. doi: 10.1002/jimd.12647. Epub 2023 Jul 10.
J Inherit Metab Dis. 2023.
PMID: 37395296
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Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene.
Anikiej-Wiczenbach P, Mański A, Milska-Musa K, Limanówka M, Wierzba J, Jamsheer A, Cyske Z, Gaffke L, Pierzynowska K, Węgrzyn G.
Anikiej-Wiczenbach P, et al. Among authors: limanowka m.
J Appl Genet. 2022 Sep;63(3):535-542. doi: 10.1007/s13353-022-00702-2. Epub 2022 May 8.
J Appl Genet. 2022.
PMID: 35525889
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Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.
Pierzynowska K, Mański A, Limanówka M, Wierzba J, Gaffke L, Anikiej P, Węgrzyn G.
Pierzynowska K, et al. Among authors: limanowka m.
Mol Genet Genomic Med. 2020 Sep;8(9):e1356. doi: 10.1002/mgg3.1356. Epub 2020 Jun 24.
Mol Genet Genomic Med. 2020.
PMID: 32578945
Free PMC article.
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