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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 2
2010 1
2011 1
2012 3
2013 2
2014 2
2015 2
2016 3
2017 2
2018 2
2019 4
2020 2
2021 2
2022 1
2023 1

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25 results

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Page 1
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. Among authors: huisman sa. 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
Down syndrome: a cardiovascular perspective.
Vis JC, Duffels MG, Winter MM, Weijerman ME, Cobben JM, Huisman SA, Mulder BJ. Vis JC, et al. Among authors: huisman sa. J Intellect Disabil Res. 2009 May;53(5):419-25. doi: 10.1111/j.1365-2788.2009.01158.x. Epub 2009 Feb 18. J Intellect Disabil Res. 2009. PMID: 19228275 Review.
Behaviour in Cornelia de Lange syndrome: a systematic review.
Mulder PA, Huisman SA, Hennekam RC, Oliver C, van Balkom ID, Piening S. Mulder PA, et al. Among authors: huisman sa. Dev Med Child Neurol. 2017 Apr;59(4):361-366. doi: 10.1111/dmcn.13361. Epub 2016 Dec 18. Dev Med Child Neurol. 2017. PMID: 27988966 Free article. Review.
Thyroid function in males with fragile X syndrome.
Huisman SA, Wiedijk BM, van Eeghen AM, Hennekam RC, van Trotsenburg ASP. Huisman SA, et al. J Pediatr Endocrinol Metab. 2019 Aug 27;32(8):903-905. doi: 10.1515/jpem-2019-0224. J Pediatr Endocrinol Metab. 2019. PMID: 31280236 No abstract available.
High rate of autonomic neuropathy in Cornelia de Lange Syndrome.
Pablo MJ, Pamplona P, Haddad M, Benavente I, Latorre-Pellicer A, Arnedo M, Trujillano L, Bueno-Lozano G, Kerr LM, Huisman SA, Kaiser FJ, Ramos F, Kline AD, Pie J, Puisac B. Pablo MJ, et al. Among authors: huisman sa. Orphanet J Rare Dis. 2021 Oct 30;16(1):458. doi: 10.1186/s13023-021-02082-y. Orphanet J Rare Dis. 2021. PMID: 34717699 Free PMC article.
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.
Mochel F, Rastetter A, Ceulemans B, Platzer K, Yang S, Shinde DN, Helbig KL, Lopergolo D, Mari F, Renieri A, Benetti E, Canitano R, Waisfisz Q, Plomp AS, Huisman SA, Wilson GN, Cathey SS, Louie RJ, Gaudio DD, Waggoner D, Kacker S, Nugent KM, Roeder ER, Bruel AL, Thevenon J, Ehmke N, Horn D, Holtgrewe M, Kaiser FJ, Kamphausen SB, Abou Jamra R, Weckhuysen S, Dalle C, Depienne C. Mochel F, et al. Among authors: huisman sa. Brain. 2020 Dec 1;143(12):3564-3573. doi: 10.1093/brain/awaa346. Brain. 2020. PMID: 33242881
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Krab LC, Marcos-Alcalde I, Assaf M, Balasubramanian M, Andersen JB, Bisgaard AM, Fitzpatrick DR, Gudmundsson S, Huisman SA, Kalayci T, Maas SM, Martinez F, McKee S, Menke LA, Mulder PA, Murch OD, Parker M, Pie J, Ramos FJ, Rieubland C, Rosenfeld Mokry JA, Scarano E, Shinawi M, Gómez-Puertas P, Tümer Z, Hennekam RC. Krab LC, et al. Among authors: huisman sa. Hum Genet. 2020 May;139(5):575-592. doi: 10.1007/s00439-020-02138-2. Epub 2020 Mar 19. Hum Genet. 2020. PMID: 32193685 Free PMC article.
25 results