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

Year Number of Results
1999 2
2001 2
2003 2
2004 4
2005 2
2006 3
2007 2
2008 3
2009 2
2010 3
2011 2
2015 1
2016 1
2017 1
2018 4
2019 5
2020 2
2021 3
2022 1
2024 0

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36 results

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Page 1
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study; Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. O'Donnell-Luria AH, et al. Among authors: van koningsbruggen s. Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9. Am J Hum Genet. 2019. PMID: 31079897 Free PMC article.
The multifunctional nucleolus.
Boisvert FM, van Koningsbruggen S, Navascués J, Lamond AI. Boisvert FM, et al. Among authors: van koningsbruggen s. Nat Rev Mol Cell Biol. 2007 Jul;8(7):574-85. doi: 10.1038/nrm2184. Nat Rev Mol Cell Biol. 2007. PMID: 17519961 Review.
New clinical diagnostic procedures for cystic fibrosis in Europe.
De Boeck K, Derichs N, Fajac I, de Jonge HR, Bronsveld I, Sermet I, Vermeulen F, Sheppard DN, Cuppens H, Hug M, Melotti P, Middleton PG, Wilschanski M; ECFS Diagnostic Network Working Group; EuroCareCF WP3 Group on CF diagnosis. De Boeck K, et al. J Cyst Fibros. 2011 Jun;10 Suppl 2:S53-66. doi: 10.1016/S1569-1993(11)60009-X. J Cyst Fibros. 2011. PMID: 21658643 Free article. Review.
Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS).
Verhoeven D, Schonenberg-Meinema D, Ebstein F, Papendorf JJ, Baars PA, van Leeuwen EMM, Jansen MH, Lankester AC, van der Burg M, Florquin S, Maas SM, van Koningsbruggen S, Krüger E, van den Berg JM, Kuijpers TW. Verhoeven D, et al. Among authors: van koningsbruggen s. J Allergy Clin Immunol. 2022 Mar;149(3):1120-1127.e8. doi: 10.1016/j.jaci.2021.07.039. Epub 2021 Aug 17. J Allergy Clin Immunol. 2022. PMID: 34416217 Free article.
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Villegas F, Lehalle D, Mayer D, Rittirsch M, Stadler MB, Zinner M, Olivieri D, Vabres P, Duplomb-Jego L, De Bont ESJM, Duffourd Y, Duijkers F, Avila M, Geneviève D, Houcinat N, Jouan T, Kuentz P, Lichtenbelt KD, Thauvin-Robinet C, St-Onge J, Thevenon J, van Gassen KLI, van Haelst M, van Koningsbruggen S, Hess D, Smallwood SA, Rivière JB, Faivre L, Betschinger J. Villegas F, et al. Among authors: van koningsbruggen s. Cell Stem Cell. 2019 Feb 7;24(2):257-270.e8. doi: 10.1016/j.stem.2018.11.021. Epub 2018 Dec 27. Cell Stem Cell. 2019. PMID: 30595499 Free article.
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Ferrer CM, Alders M, Postma AV, Park S, Klein MA, Cetinbas M, Pajkrt E, Glas A, van Koningsbruggen S, Christoffels VM, Mannens MMAM, Knegt L, Etchegaray JP, Sadreyev RI, Denu JM, Mostoslavsky G, van Maarle MC, Mostoslavsky R. Ferrer CM, et al. Among authors: van koningsbruggen s. Genes Dev. 2018 Mar 1;32(5-6):373-388. doi: 10.1101/gad.307330.117. Epub 2018 Mar 19. Genes Dev. 2018. PMID: 29555651 Free PMC article.
36 results