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

Year Number of Results
2011 2
2012 1
2013 1
2014 3
2015 1
2016 2
2017 7
2018 7
2019 6
2020 7
2021 8
2022 5
2023 5
2024 1

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47 results

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Page 1
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. Smallwood K, et al. Among authors: zeidler s. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. Am J Hum Genet. 2023. PMID: 37075751 Free PMC article.
[Fragile X syndrome: new therapeutic strategies].
Zeidler S, Dierckx B, Lubbers K, van Eeghen AM, Lincke CR, Kievit JA, Willemsen R, Rietman A. Zeidler S, et al. Tijdschr Psychiatr. 2018;60(5):338-342. Tijdschr Psychiatr. 2018. PMID: 29766482 Free article. Review. Dutch.
PET-NECK: a multicentre randomised Phase III non-inferiority trial comparing a positron emission tomography-computerised tomography-guided watch-and-wait policy with planned neck dissection in the management of locally advanced (N2/N3) nodal metastases in patients with squamous cell head and neck cancer.
Mehanna H, McConkey CC, Rahman JK, Wong WL, Smith AF, Nutting C, Hartley AG, Hall P, Hulme C, Patel DK, Zeidler SV, Robinson M, Sanghera B, Fresco L, Dunn JA. Mehanna H, et al. Among authors: zeidler sv. Health Technol Assess. 2017 Apr;21(17):1-122. doi: 10.3310/hta21170. Health Technol Assess. 2017. PMID: 28409743 Free PMC article. Clinical Trial.
Translational endpoints in fragile X syndrome.
de Esch CE, Zeidler S, Willemsen R. de Esch CE, et al. Among authors: zeidler s. Neurosci Biobehav Rev. 2014 Oct;46 Pt 2:256-69. doi: 10.1016/j.neubiorev.2013.10.012. Epub 2013 Oct 30. Neurosci Biobehav Rev. 2014. PMID: 24184744 Review.
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Buijsse N, Jansen FE, Ockeloen CW, van Kempen MJA, Zeidler S, Willemsen MH, Scarano E, Monticone S, Zonneveld-Huijssoon E, Low KJ, Bayat A, Sisodiya SM, Samanta D, Lesca G, de Jong D, Giltay JC, Verbeek NE, Kleefstra T, Brilstra EH, Vlaskamp DRM. Buijsse N, et al. Among authors: zeidler s. Epilepsia Open. 2023 Dec;8(4):1300-1313. doi: 10.1002/epi4.12799. Epub 2023 Aug 18. Epilepsia Open. 2023. PMID: 37501353 Free PMC article.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Dingemans AJM, Truijen KMG, van de Ven S, Bernier R, Bongers EMHF, Bouman A, de Graaff-Herder L, Eichler EE, Gerkes EH, De Geus CM, van Hagen JM, Jansen PR, Kerkhof J, Kievit AJA, Kleefstra T, Maas SM, de Man SA, McConkey H, Patterson WG, Dobson AT, Prijoles EJ, Sadikovic B, Relator R, Stevenson RE, Stumpel CTRM, Heijligers M, Stuurman KE, Löhner K, Zeidler S, Lee JA, Lindy A, Zou F, Tedder ML, Vissers LELM, de Vries BBA. Dingemans AJM, et al. Among authors: zeidler s. Transl Psychiatry. 2022 Oct 1;12(1):421. doi: 10.1038/s41398-022-02189-1. Transl Psychiatry. 2022. PMID: 36182950 Free PMC article.
International management platform for children's interstitial lung disease (chILD-EU).
Griese M, Seidl E, Hengst M, Reu S, Rock H, Anthony G, Kiper N, Emiralioğlu N, Snijders D, Goldbeck L, Leidl R, Ley-Zaporozhan J, Krüger-Stollfuss I, Kammer B, Wesselak T, Eismann C, Schams A, Neuner D, MacLean M, Nicholson AG, Lauren M, Clement A, Epaud R, de Blic J, Ashworth M, Aurora P, Calder A, Wetzke M, Kappler M, Cunningham S, Schwerk N, Bush A; the other chILD-EU collaborators. Griese M, et al. Thorax. 2018 Mar;73(3):231-239. doi: 10.1136/thoraxjnl-2017-210519. Epub 2017 Oct 22. Thorax. 2018. PMID: 29056600 Free article. Clinical Trial.
Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK. Absalom NL, et al. Among authors: zeidler s. Nat Commun. 2022 Apr 5;13(1):1822. doi: 10.1038/s41467-022-29280-x. Nat Commun. 2022. PMID: 35383156 Free PMC article.
47 results