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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
2024 3

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28 results

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Page 1
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: huisman sa. J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
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
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.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. Among authors: huisman sa. HGG Adv. 2024 Mar 29;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Online ahead of print. HGG Adv. 2024. PMID: 38553851 Free PMC article.
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.
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.
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.
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
28 results