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Similar articles for PMID: 28520343

101 results

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Page 1
Pitt-Hopkins Syndrome.
Dean L. Dean L. 2012 Mar 8 [updated 2018 Aug 1]. In: Pratt VM, Scott SA, Pirmohamed M, Esquivel B, Kattman BL, Malheiro AJ, editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012–. 2012 Mar 8 [updated 2018 Aug 1]. In: Pratt VM, Scott SA, Pirmohamed M, Esquivel B, Kattman BL, Malheiro AJ, editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012–. PMID: 28520343 Free Books & Documents. Review.
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.
Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M. Pasquetti D, et al. Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9. Clin Genet. 2024. PMID: 37558216
Fatal gastrointestinal complications in Pitt-Hopkins syndrome.
Koppen IJN, Menke LA, Westra WM, Struik F, Mesman S, van Wijk MP, Huisman SA. Koppen IJN, et al. Am J Med Genet A. 2023 Mar;191(3):855-858. doi: 10.1002/ajmg.a.63079. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36511359
101 results