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The Journal of Molecular Diagnostics : JMD|November 2, 2013
A novel methylation PCR that offers standardized determination of FMR1 methylation and CGG repeat length without southern blot analysisMarina Grasso, Elles M J Boon, Stela Filipovic-Sadic, et al.
Plos One|January 7, 2014
Mrassf1a-pap, a novel methylation-based assay for the detection of cell-free fetal DNA in maternal plasmaJessica M E van den Oever, Sahila Balkassmi, Tim Segboer, et al.
Prenatal Diagnosis|June 1, 2017
Comparing methods for fetal fraction determination and quality control of NIPT samplesDaphne M van Beek, Roy Straver, Marian M Weiss, et al.
The Journal of Molecular Diagnostics : JMD|July 12, 2015
A Novel Targeted Approach for Noninvasive Detection of Paternally Inherited Mutations in Maternal PlasmaJessica M E van den Oever, Ivonne J H M van Minderhout, Cornelis L Harteveld, et al.
Prenatal Diagnosis|April 21, 2012
Non-invasive prenatal diagnosis of beta-thalassemia and sickle-cell disease using pyrophosphorolysis-activated polymerization and melting curve analysisMarion Phylipsen, Supawadee Yamsri, Emmely E Treffers, et al.
The Journal of Clinical Endocrinology and Metabolism|April 3, 2024
MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple LevelsAlejandra V Rodríguez Rondón, Mila S Welling, Erica L T van den Akker, et al.
European Journal of Medical Genetics|June 14, 2011
Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocationAntoinet C J Gijsbers, Johannes G Dauwerse, Cathy A J Bosch, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 28, 2022
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutationRenate Kos, Joël Israëls, Christine D L van Gogh, et al.
Clinical Chemistry|January 15, 2013
Successful noninvasive trisomy 18 detection using single molecule sequencingJessica M E van den Oever, Sahila Balkassmi, Lennart F Johansson, et al.
Scientific Reports|December 6, 2016
NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) resultsBirgit Sikkema-Raddatz, Lennart F Johansson, Eddy N de Boer, et al.
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