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Year Number of Results
2016 2
2017 1
2018 3
2019 1
2020 2
2021 1
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Page 1
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Haijes HA, et al. Among authors: van es rm, vos hr. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353023 Free PMC article.
Chaperonin CCT checkpoint function in basal transcription factor TFIID assembly.
Antonova SV, Haffke M, Corradini E, Mikuciunas M, Low TY, Signor L, van Es RM, Gupta K, Scheer E, Vos HR, Tora L, Heck AJR, Timmers HTM, Berger I. Antonova SV, et al. Among authors: van es rm, vos hr. Nat Struct Mol Biol. 2018 Dec;25(12):1119-1127. doi: 10.1038/s41594-018-0156-z. Epub 2018 Dec 3. Nat Struct Mol Biol. 2018. PMID: 30510221 Free PMC article.
Quantitative Proteomics of the SMAD (Suppressor of Mothers against Decapentaplegic) Transcription Factor Family Identifies Importin 5 as a Bone Morphogenic Protein Receptor SMAD-specific Importin.
Baas R, Sijm A, van Teeffelen HA, van Es R, Vos HR, Marc Timmers HT. Baas R, et al. Among authors: van es r, vos hr. J Biol Chem. 2016 Nov 11;291(46):24121-24132. doi: 10.1074/jbc.M116.748582. Epub 2016 Oct 4. J Biol Chem. 2016. PMID: 27703004 Free PMC article.
Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.
Tessadori F, Giltay JC, Hurst JA, Massink MP, Duran K, Vos HR, van Es RM; Deciphering Developmental Disorders Study, Scott RH, van Gassen KLI, Bakkers J, van Haaften G. Tessadori F, et al. Among authors: van es rm, vos hr. Nat Genet. 2017 Nov;49(11):1642-1646. doi: 10.1038/ng.3956. Epub 2017 Sep 18. Nat Genet. 2017. PMID: 28920961