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Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Among authors: van rijn p, van hagen jm, van de beek i, van tintelen jp. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Fetal fraction evaluation in non-invasive prenatal screening (NIPS).
Hestand MS, Bessem M, van Rijn P, de Menezes RX, Sie D, Bakker I, Boon EMJ, Sistermans EA, Weiss MM. Hestand MS, et al. Among authors: van rijn p. Eur J Hum Genet. 2019 Feb;27(2):198-202. doi: 10.1038/s41431-018-0271-7. Epub 2018 Sep 25. Eur J Hum Genet. 2019. PMID: 30254213 Free PMC article.
Nonsyndromal profound genetic deafness in childhood.
Cremers CW, Marres HA, van Rijn PM. Cremers CW, et al. Among authors: van rijn pm. Ann N Y Acad Sci. 1991;630:191-6. doi: 10.1111/j.1749-6632.1991.tb19587.x. Ann N Y Acad Sci. 1991. PMID: 1952589 Review.
Acquired causes of deafness in childhood.
Cremers CW, van Rijn PM. Cremers CW, et al. Among authors: van rijn pm. Ann N Y Acad Sci. 1991;630:197-202. doi: 10.1111/j.1749-6632.1991.tb19588.x. Ann N Y Acad Sci. 1991. PMID: 1952590 Review. No abstract available.
[Meningitis as cause of prelingual deafness].
Cremers CW, van Rijn PM, Admiraal RJ. Cremers CW, et al. Among authors: van rijn pm. Ned Tijdschr Geneeskd. 1989 Aug 5;133(31):1562-3. Ned Tijdschr Geneeskd. 1989. PMID: 2797260 Dutch. No abstract available.
236 results