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Expanding the phenotype of UPF3B-related disorder: Case reports and literature review.
Romano F, Haanpää MK, Pomianowski P, Peraino AR, Pollard JR, Di Feo MF, Traverso M, Severino M, Derchi M, Henzen E, Zara F, Faravelli F, Capra V, Scala M. Romano F, et al. Among authors: haanpaa mk. Am J Med Genet A. 2024 Jun;194(6):e63534. doi: 10.1002/ajmg.a.63534. Epub 2024 Feb 6. Am J Med Genet A. 2024. PMID: 38318947 Review.
ALG11-CDG syndrome: Expanding the phenotype.
Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA 2nd. Haanpää MK, et al. Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24. Am J Med Genet A. 2019. PMID: 30676690 Free PMC article.
Report of a Novel Homozygous Intragenic DCC Duplication and a Review of Literature of Developmental Split-Brain Syndrome aka Horizontal Gaze Palsy with Progressive Scoliosis-2 with Impaired Intellectual Development Syndrome.
Rahikkala E, Väisänen T, Ojala L, Pohjola P, Toivonen M, Parkkola R, Haanpää MK. Rahikkala E, et al. Among authors: haanpaa mk. Mol Syndromol. 2024 Mar;15(2):149-155. doi: 10.1159/000534772. Epub 2023 Dec 4. Mol Syndromol. 2024. PMID: 38585553
Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.
Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M. Micale L, et al. Among authors: haanpaa mk. Genet Med. 2022 Feb;24(2):439-453. doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906501 Free article.
28 results