Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
7 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
Acta Obstet Gynecol Scand. 2021 Jun;100(6):1106-1115. doi: 10.1111/aogs.14053. Epub 2020 Dec 28.
Acta Obstet Gynecol Scand. 2021.
PMID: 33249554
Free PMC article.
The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.
Srebniak MI, Knapen MFCM, Polak M, Joosten M, Diderich KEM, Govaerts LCP, Boter M, Kromosoeto JNR, van Hassel DACM, Huijbregts G, van IJcken WFJ, Heydanus R, Dijkman A, Toolenaar T, de Vries FAT, Knijnenburg J, Go ATJI, Galjaard RH, Van Opstal D.
Srebniak MI, et al. Among authors: kromosoeto jnr.
Hum Mutat. 2017 Jul;38(7):880-888. doi: 10.1002/humu.23232. Epub 2017 May 30.
Hum Mutat. 2017.
PMID: 28409863
Item in Clipboard
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.
Farkas K, Deák BK, Sánchez LC, Martínez AM, Corell JJ, Botella AM, Benito GM, López RR, Vanecek T, Kazakov DV, Kromosoeto JN, van den Ouweland AM, Varga J, Széll M, Nagy N.
Farkas K, et al. Among authors: kromosoeto jn.
BMC Genet. 2016 Feb 9;17:36. doi: 10.1186/s12863-016-0346-9.
BMC Genet. 2016.
PMID: 26861065
Free PMC article.
Item in Clipboard
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
van Minkelen R, van Bever Y, Kromosoeto JN, Withagen-Hermans CJ, Nieuwlaat A, Halley DJ, van den Ouweland AM.
van Minkelen R, et al. Among authors: kromosoeto jn.
Clin Genet. 2014 Apr;85(4):318-27. doi: 10.1111/cge.12187. Epub 2013 Jun 25.
Clin Genet. 2014.
PMID: 23656349
Item in Clipboard
Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours.
Kattentidt Mouravieva AA, Geurts-Giele IR, de Krijger RR, van Noesel MM, van de Ven CP, van den Ouweland AM, Kromosoeto JN, Dinjens WN, Dubbink HJ, Smits R, Wagner A.
Kattentidt Mouravieva AA, et al. Among authors: kromosoeto jn.
Eur J Cancer. 2012 Aug;48(12):1867-74. doi: 10.1016/j.ejca.2012.01.004. Epub 2012 Feb 2.
Eur J Cancer. 2012.
PMID: 22305464
Item in Clipboard
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
van Veghel-Plandsoen MM, Wouters CH, Kromosoeto JN, den Ridder-Klünnen MC, Halley DJ, van den Ouweland AM.
van Veghel-Plandsoen MM, et al. Among authors: kromosoeto jn.
Eur J Hum Genet. 2011 Sep;19(9):1009-12. doi: 10.1038/ejhg.2011.60. Epub 2011 Apr 13.
Eur J Hum Genet. 2011.
PMID: 21487440
Free PMC article.
Item in Clipboard
Validation of a new immunoblot assay (LiaTek HIV III) for confirmation of human immunodeficiency virus infection.
Zaaijer HL, van Rixel GA, Kromosoeto JN, Balgobind-Ramdas DR, Cuypers HT, Lelie PN.
Zaaijer HL, et al. Among authors: kromosoeto jn.
Transfusion. 1998 Aug;38(8):776-81. doi: 10.1046/j.1537-2995.1998.38898375518.x.
Transfusion. 1998.
PMID: 9709787
Item in Clipboard
Cite
Cite