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Prenatal Diagnosis|April 25, 2013
Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidiesElles M J Boon, Brigitte H W FaasAmerican Journal of Medical Genetics. Part A|September 22, 2018
The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutationLotte Kleinendorst, Graciela Pi Castán, Alfonso Caro-Llopis, et al.Cancer Research|September 18, 2002
Wnt signaling regulates expression of the receptor tyrosine kinase met in colorectal cancerElles M J Boon, Ronald van der Neut, Marc van de Wetering, et al.Cancer Science|July 26, 2006
Activation of Wnt signaling in the intestinal mucosa of Apc +/min mice does not cause overexpression of the receptor tyrosine kinase MetElles M J Boon, Walter Pouwels, Sandra Redeker, et al.Expert Review of Molecular Diagnostics|May 22, 2014
Interpretation of NOTCH3 mutations in the diagnosis of CADASILJulie W Rutten, Joost Haan, Gisela M Terwindt, et al.Cephalalgia : an International Journal of Headache|July 20, 2011
Head tremor related to CACNA1A mutationsRianne P J Geerlings, Peter J Koehler, Danielle Y P Haane, et al.Prenatal Diagnosis|June 30, 2007
Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasmaElles M J Boon, Hélène B Schlecht, Peter Martin, et al.European Journal of Human Genetics : EJHG|March 8, 2020
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74Lotte Kleinendorst, Sanne I M Alsters, Ozair Abawi, et al.European Journal of Human Genetics : EJHG|September 27, 2018
Fetal fraction evaluation in non-invasive prenatal screening (NIPS)Matthew S Hestand, Mark Bessem, Peter van Rijn, et al.Prenatal Diagnosis|March 14, 2015
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasmaJessica M E van den Oever, Emilia K Bijlsma, Ilse Feenstra, et al.Pageof 4