Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Clinical presentation of 13 children with alkaptonuria.
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
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.
Item in Clipboard
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
Item in Clipboard
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M, Pietruszka M, Zawadzka M, Sawicka A, Lemska A, Limanówka M, Żurek J, Talaśka-Liczbik W, Mazurkiewicz-Bełdzińska M.
Krygier M, et al. Among authors: limanowka m.
Front Genet. 2024 Jan 5;14:1300952. doi: 10.3389/fgene.2023.1300952. eCollection 2023.
Front Genet. 2024.
PMID: 38250573
Free PMC article.
Item in Clipboard
Cite
Cite