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

Year Number of Results
2004 1
2006 2
2009 2
2012 3
2013 1
2014 1
2016 1
2017 2
2018 2
2019 2
2020 1
2021 2
2022 1
2023 1
2024 0

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20 results

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Page 1
The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
Pellikaan K, van Woerden GM, Kleinendorst L, Rosenberg AGW, Horsthemke B, Grosser C, van Zutven LJCM, van Rossum EFC, van der Lely AJ, Resnick JL, Brüggenwirth HT, van Haelst MM, de Graaff LCG. Pellikaan K, et al. Among authors: van zutven ljcm. Genes (Basel). 2021 Jun 7;12(6):875. doi: 10.3390/genes12060875. Genes (Basel). 2021. PMID: 34200226 Free PMC article. Review.
Social and medical need for whole genome high resolution NIPT.
Srebniak MI, Knapen MFCM, Govaerts LCP, Polak M, Joosten M, Diderich KEM, van Zutven LJCM, Prinsen KAKE, Riedijk S, Go ATJI, Galjaard RH, Hoefsloot LH, Van Opstal D. Srebniak MI, et al. Among authors: van zutven ljcm. Mol Genet Genomic Med. 2020 Jan;8(1):e1062. doi: 10.1002/mgg3.1062. Epub 2019 Dec 1. Mol Genet Genomic Med. 2020. PMID: 31790156 Free PMC article.
Multiple tumors due to mosaic genome-wide paternal uniparental disomy.
Postema FAM, Bliek J, van Noesel CJM, van Zutven LJCM, Oosterwijk JC, Hopman SMJ, Merks JHM, Hennekam RC. Postema FAM, et al. Among authors: van zutven ljcm. Pediatr Blood Cancer. 2019 Jun;66(6):e27715. doi: 10.1002/pbc.27715. Epub 2019 Mar 18. Pediatr Blood Cancer. 2019. PMID: 30882989
What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?
van Zutven LJCM, Mijalkovic J, van Veghel-Plandsoen M, Goense M, Polak M, Knapen MFCM, de Weerd S, Joosten M, Diderich KEM, Hoefsloot LH, Van Opstal D, Srebniak MI. van Zutven LJCM, et al. Mol Cytogenet. 2023 Sep 29;16(1):26. doi: 10.1186/s13039-023-00657-x. Mol Cytogenet. 2023. PMID: 37775759 Free PMC article.
Health Problems in Adults with Prader-Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.
Rosenberg AGW, Wellink CM, Tellez Garcia JM, Pellikaan K, Van Abswoude DH, Davidse K, Van Zutven LJCM, Brüggenwirth HT, Resnick JL, Van der Lely AJ, De Graaff LCG. Rosenberg AGW, et al. Among authors: van zutven ljcm. J Clin Med. 2022 Jul 12;11(14):4033. doi: 10.3390/jcm11144033. J Clin Med. 2022. PMID: 35887798 Free PMC article.
Does non-invasive prenatal testing affect the livebirth prevalence of Down syndrome in the Netherlands? A population-based register study.
de Groot-van der Mooren M, de Graaf G, Weijerman ME, Hoffer MJV, Knijnenburg J, van der Kevie-Kersemaekers AMF, Kooper AJA, Voorhoeve E, Sikkema-Raddatz B, van Zutven LJCM, Srebniak MI, Huijsdens-van Amsterdam K, Engelen JJM, Smeets D, van Kaam AH, Cornel MC. de Groot-van der Mooren M, et al. Among authors: van zutven ljcm. Prenat Diagn. 2021 Sep;41(10):1351-1359. doi: 10.1002/pd.6003. Epub 2021 Jul 1. Prenat Diagn. 2021. PMID: 34176145 Free PMC article.
Phenotypic variability of atypical 22q11.2 deletions not including TBX1.
Verhagen JM, Diderich KE, Oudesluijs G, Mancini GM, Eggink AJ, Verkleij-Hagoort AC, Groenenberg IA, Willems PJ, du Plessis FA, de Man SA, Srebniak MI, van Opstal D, Hulsman LO, van Zutven LJ, Wessels MW. Verhagen JM, et al. Among authors: van zutven lj. Am J Med Genet A. 2012 Oct;158A(10):2412-20. doi: 10.1002/ajmg.a.35517. Epub 2012 Aug 14. Am J Med Genet A. 2012. PMID: 22893440
Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.
de Vree PJ, de Wit E, Yilmaz M, van de Heijning M, Klous P, Verstegen MJ, Wan Y, Teunissen H, Krijger PH, Geeven G, Eijk PP, Sie D, Ylstra B, Hulsman LO, van Dooren MF, van Zutven LJ, van den Ouweland A, Verbeek S, van Dijk KW, Cornelissen M, Das AT, Berkhout B, Sikkema-Raddatz B, van den Berg E, van der Vlies P, Weening D, den Dunnen JT, Matusiak M, Lamkanfi M, Ligtenberg MJ, ter Brugge P, Jonkers J, Foekens JA, Martens JW, van der Luijt R, van Amstel HK, van Min M, Splinter E, de Laat W. de Vree PJ, et al. Among authors: van zutven lj. Nat Biotechnol. 2014 Oct;32(10):1019-25. doi: 10.1038/nbt.2959. Epub 2014 Aug 17. Nat Biotechnol. 2014. PMID: 25129690
20 results