Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

71 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Male patients affected by mosaic PCDH19 mutations: five new cases.
de Lange IM, Rump P, Neuteboom RF, Augustijn PB, Hodges K, Kistemaker AI, Brouwer OF, Mancini GMS, Newman HA, Vos YJ, Helbig KL, Peeters-Scholte C, Kriek M, Knoers NV, Lindhout D, Koeleman BPC, van Kempen MJA, Brilstra EH. de Lange IM, et al. Among authors: kriek m. Neurogenetics. 2017 Jul;18(3):147-153. doi: 10.1007/s10048-017-0517-5. Epub 2017 Jul 1. Neurogenetics. 2017. PMID: 28669061 Free PMC article.
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM. Reynhout S, et al. Among authors: kriek m. Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27. Am J Hum Genet. 2019. PMID: 30595372 Free PMC article.
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM, Vijfhuizen L, van der Wielen MJ, Vollebregt MJ; Coffin-Siris consortium; Breuning MH, Kriek M, van Haeringen A, den Dunnen JT, Hoischen A, Clayton-Smith J, de Vries BB, Hennekam RC, van Belzen MJ. Santen GW, et al. Among authors: kriek m. Hum Mutat. 2013 Nov;34(11):1519-28. doi: 10.1002/humu.22394. Epub 2013 Aug 30. Hum Mutat. 2013. PMID: 23929686
Next-generation diagnostics: gene panel, exome, or whole genome?
Sun Y, Ruivenkamp CA, Hoffer MJ, Vrijenhoek T, Kriek M, van Asperen CJ, den Dunnen JT, Santen GW. Sun Y, et al. Among authors: kriek m. Hum Mutat. 2015 Jun;36(6):648-55. doi: 10.1002/humu.22783. Epub 2015 Apr 17. Hum Mutat. 2015. PMID: 25772376
Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: kriek m. Genet Med. 2019 May;21(5):1074-1082. doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5. Genet Med. 2019. PMID: 30287924 Free article.
Correction: Putting genome-wide sequencing in neonates into perspective.
van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE. van der Sluijs PJ, et al. Among authors: kriek m. Genet Med. 2019 Sep;21(9):2159-2164. doi: 10.1038/s41436-018-0363-3. Genet Med. 2019. PMID: 30464259 Free article.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.
Pennings M, Schouten MI, van Gaalen J, Meijer RPP, de Bot ST, Kriek M, Saris CGJ, van den Berg LH, van Es MA, Zuidgeest DMH, Elting MW, van de Kamp JM, van Spaendonck-Zwarts KY, Die-Smulders C, Brilstra EH, Verschuuren CC, de Vries BBA, Bruijn J, Sofou K, Duijkers FA, Jaeger B, Schieving JH, van de Warrenburg BP, Kamsteeg EJ. Pennings M, et al. Among authors: kriek m. Eur J Hum Genet. 2020 Jan;28(1):40-49. doi: 10.1038/s41431-019-0497-z. Epub 2019 Sep 5. Eur J Hum Genet. 2020. PMID: 31488895 Free PMC article.
Technologies for Pharmacogenomics: A Review.
van der Lee M, Kriek M, Guchelaar HJ, Swen JJ. van der Lee M, et al. Among authors: kriek m. Genes (Basel). 2020 Dec 4;11(12):1456. doi: 10.3390/genes11121456. Genes (Basel). 2020. PMID: 33291630 Free PMC article. Review.
71 results