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

Year Number of Results
2002 1
2003 1
2004 1
2005 1
2006 1
2007 1
2008 5
2009 4
2010 2
2011 1
2012 4
2013 2
2015 2
2016 3
2017 3
2018 1
2020 3
2021 7
2022 5
2023 8
2024 7

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51 results

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Page 1
Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.
Demirdas S, van den Bersselaar LM, Lechner R, Bos J, Alsters SIM, Baars MJH, Baas AF, Baysal Ö, van der Crabben SN, Dulfer E, Giesbertz NAA, Helderman-van den Enden ATJM, Hilhorst-Hofstee Y, Kempers MJE, Komdeur FL, Loeys B, Majoor-Krakauer D, Ockeloen CW, Overwater E, van Tintelen PJ, Voorendt M, de Waard V, Maugeri A, Brüggenwirth HT, van de Laar IMBH, Houweling AC. Demirdas S, et al. Among authors: bruggenwirth ht. Circ Genom Precis Med. 2024 Apr 16:e003978. doi: 10.1161/CIRCGEN.122.003978. Online ahead of print. Circ Genom Precis Med. 2024. PMID: 38623759 Free article.
Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
de Wagenaar NP, van den Bersselaar LM, Odijk HJHM, Stefens SJM, Reinhardt DP, Roos-Hesselink JW, Kanaar R, Verhagen JMA, Brüggenwirth HT, van de Laar IMBH, van der Pluijm I, Essers J. de Wagenaar NP, et al. Among authors: bruggenwirth ht. Hum Mol Genet. 2024 Mar 27:ddae044. doi: 10.1093/hmg/ddae044. Online ahead of print. Hum Mol Genet. 2024. PMID: 38538566
Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.
van den Bersselaar LM, Verhagen JMA, Bekkers JA, Kempers M, Houweling AC, Baars M, Overwater E, Hilhorst-Hofstee Y, Barge-Schaapveld DQCM, Rompen E, Krapels IPC, Dulfer E, Wessels MW, Loeys BL, Verhagen HJM, Maugeri A, Roos-Hesselink JW, Brüggenwirth HT, van de Laar IMBH. van den Bersselaar LM, et al. Among authors: bruggenwirth ht. Genet Med. 2024 Feb;26(2):101024. doi: 10.1016/j.gim.2023.101024. Epub 2023 Dec 11. Genet Med. 2024. PMID: 38085215 Free article. No abstract available.
Response to the comment on Diderich et al. "The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis" (EJMG 66(10),104844).
Diderich KEM, Klapwijk JE, van der Schoot V, van den Born M, Wilke M, Joosten M, Stuurman KE, Hoefsloot LH, Van Opstal D, Brüggenwirth HT, Srebniak MI. Diderich KEM, et al. Among authors: bruggenwirth ht. Eur J Med Genet. 2024 Feb;67:104884. doi: 10.1016/j.ejmg.2023.104884. Epub 2023 Nov 14. Eur J Med Genet. 2024. PMID: 37972850 Free article. No abstract available.
De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H; Undiagnosed Diseases Network; Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. Ward SK, et al. Among authors: bruggenwirth ht. Am J Med Genet A. 2024 Jan;194(1):17-30. doi: 10.1002/ajmg.a.63399. Epub 2023 Sep 25. Am J Med Genet A. 2024. PMID: 37743782
The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.
Diderich KEM, Klapwijk JE, van der Schoot V, van den Born M, Wilke M, Joosten M, Stuurman KE, Hoefsloot LH, Van Opstal D, Brüggenwirth HT, Srebniak MI. Diderich KEM, et al. Among authors: bruggenwirth ht. Eur J Med Genet. 2023 Oct;66(10):104844. doi: 10.1016/j.ejmg.2023.104844. Epub 2023 Sep 13. Eur J Med Genet. 2023. PMID: 37709011
Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.
Edel GG, Hol JA, Slot E, von der Thüsen JH, van Bever Y, de Jonge RCJ, van Tienhoven M, Brüggenwirth HT, de Klein A, Rottier RJ. Edel GG, et al. Among authors: bruggenwirth ht. Lab Invest. 2023 Nov;103(11):100233. doi: 10.1016/j.labinv.2023.100233. Epub 2023 Aug 9. Lab Invest. 2023. PMID: 37567389 Free article.
51 results