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Relationship between growth and intelligence quotient in children with Down syndrome.
Transl Pediatr. 2022 Apr;11(4):505-513. doi: 10.21037/tp-21-424.
Transl Pediatr. 2022.
PMID: 35558976
Free PMC article.
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: manski a.
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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Overgeneralisation effect in trait inferencing about a child with craniofacial microsomia by medical students and child's relatives.
Milska KA, Mański A, Wierzba J.
Milska KA, et al. Among authors: manski a.
J Mother Child. 2021 Jan 29;24(3):25-31. doi: 10.34763/jmotherandchild.20202403.2025.d-20-00010.
J Mother Child. 2021.
PMID: 33548165
Free PMC article.
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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: manski a.
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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Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.
Cyske Z, Anikiej-Wiczenbach P, Wisniewska K, Gaffke L, Pierzynowska K, Mański A, Wegrzyn G.
Cyske Z, et al. Among authors: manski a.
J Multidiscip Healthc. 2022 Sep 19;15:2097-2110. doi: 10.2147/JMDH.S362994. eCollection 2022.
J Multidiscip Healthc. 2022.
PMID: 36158637
Free PMC article.
Review.
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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: manski a.
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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