Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sanne van der Steen"'
Autor:
Arend Tibben, Sanne van der Steen, Jan J. V. Busschbach, Iris M. Bakkeren, Marike Polak, Samantha Riedijk, Diewertje Houtman, Robert-Jan H. Galjaard
Publikováno v:
European Journal of Human Genetics, 27(2), 235-243
European Journal of Human Genetics, 27(2), 235-243. Nature Publishing Group
European Journal of Human Genetics, 27(2), 235-243. Nature Publishing Group
Testing options for pregnant women at increased risk of common aneuploidies are non-invasive prenatal testing (NIPT) and invasive prenatal diagnosis (PND). Clinicians are challenged to comprehensively discuss the complex information in a patient-cent
Autor:
Marieke Joosten, Gido Huijbregts, Malgorzata I. Srebniak, Toon Toolenaar, Maarten F. C. M. Knapen, Samantha Riedijk, Robert-Jan H. Galjaard, Katja de Graaf, Diane Van Opstal, Attie T.J.I. Go, Dimitri N.M. Papatsonis, Lutgarde C.P. Govaerts, Karin E. M. Diderich, Sanne van der Steen, Jeroen Knijnenburg, Femke A. T. de Vries
Publikováno v:
Prenatal Diagnosis. 37:73-80
__Background:__ Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to eva
Autor:
Lutgarde, Govaerts, Malgorzata, Srebniak, Karin, Diderich, Marieke, Joosten, Sam, Riedijk, Maarten, Knapen, Attie, Go, Dimitri, Papatsonis, Katja, de Graaf, Toon, Toolenaar, Sanne, van der Steen, Gido, Huijbregts, Jeroen, Knijnenburg, Femke, de Vries, Diane, Van Opstal, Robert-Jan, Galjaard
Publikováno v:
Prenatal diagnosis. 37(1)
Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregna
Autor:
Marieke Joosten, Maarten F. C. M. Knapen, Femke A. T. de Vries, Diane Van Opstal, Sam Riedijk, Robert-Jan H. Galjaard, Karin E. M. Diderich, Lutgarde C.P. Govaerts, Sanne van der Steen, Aad Tibben
Publikováno v:
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 3, Iss 3, Pp 713-723 (2014)
Journal of Clinical Medicine, 3(3), 713-723. MDPI AG
Journal of Clinical Medicine, Vol 3, Iss 3, Pp 713-723 (2014)
Journal of Clinical Medicine, 3(3), 713-723. MDPI AG
Pregnant couples tend to prefer a maximum of information about the health of their fetus. Therefore, we implemented whole genome microarray instead of conventional karyotyping (CK) for all indications for prenatal diagnosis (PND). The array detects m