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European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 3, pp. 308 - 314
Journal Article
Human Mutation, ISSN 1059-7794, 2013, Volume 34, Issue 12, pp. 1721 - 1726
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 25 - 39
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2016, Volume 24, Issue 10, pp. 1409 - 1416
Early in pregnancy women and their partners face the complex decision on whether or not to participate in prenatal testing for fetal chromosomal abnormalities.... 
Decision Making | Pregnancy | Informed Consent | Prenatal Diagnosis - psychology | Humans | Adult | Female | Internet | Patient Education as Topic | Multimedia | Participation | Amniocentesis | Decision making | Gynecology | Fetuses | Clinical trials | Villus | Down syndrome | Patients | Obstetrics | Brochures | Womens health | Sensory integration | Genetics | Index Medicus
Journal Article
by Van Dijck, Anke and Vulto-van Silfhout, Anneke T and Cappuyns, Elisa and van der Werf, Ilse M and Mancini, Grazia M and Tzschach, Andreas and Bernier, Raphael and Gozes, Illana and Eichler, Evan E and Romano, Corrado and Lindstrand, Anna and Nordgren, Ann and Bakshi, Madhura and Wilson, Meredith and Berman, Yemina and Dickson, Rebecca and Fransen, Erik and Helsmoortel, Céline and Van den Ende, Jenneke and Van der Aa, Nathalie and van de Wijdeven, Marina J and Rosenblum, Jessica and Monteiro, Fabíola and Kok, Fernando and Quercia, Nada and Bowdin, Sarah and Dyment, David and Chitayat, David and Alkhunaizi, Ebba and Boonen, Susanne E and Keren, Boris and Jacquette, Aurelia and Faivre, Laurence and Bezieau, Stephane and Isidor, Bertrand and Rieß, Angelika and Moog, Ute and Lynch, Sally Ann and McVeigh, Terri and Elpeleg, Orly and Smeland, Marie Falkenberg and Fannemel, Madeleine and van Haeringen, Arie and Maas, Saskia M and Veenstra-Knol, H.E and Schouten, Meyke and Willemsen, Marjolein H and Marcelis, Carlo L and Ockeloen, Charlotte and van der Burgt, Ineke and Feenstra, Ilse and van der Smagt, Jasper and Jezela-Stanek, Aleksandra and Krajewska-Walasek, Malgorzata and González-Lamuño, Domingo and Anderlid, Britt-Marie and Malmgren, Helena and Nordenskjöld, Magnus and Clement, Emma and Hurst, Jane and Metcalfe, Kay and Mansour, Sahar and Lachlan, Katherine and Clayton-Smith, Jill and Hendon, Laura G and Abdulrahman, Omar A and Morrow, Eric and McMillan, Clare and Gerdts, Jennifer and Peeden, Joseph and Schrier Vergano, Samantha A and Valentino, Caitlin and Chung, Wendy K and Ozmore, Jillian R and Bedrosian-Sermone, Sandra and Dennis, Anna and Treat, Kayla and Hughes, Susan Starling and Safina, Nicole and Le Pichon, Jean-Baptiste and McGuire, Marianne and Infante, Elena and Madan-Khetarpal, Suneeta and Desai, Sonal and Benke, Paul and Krokosky, Alyson and Cristian, Ingrid and Baker, Laura and Gripp, Karen and Stessman, Holly A and Eichenberger, Jacob and Jayakar, Parul and Pizzino, Amy and Manning, Melanie Ann and Slattery, Leah and Kvarnung, Malin and Kleefstra, Tjitske and de Vries, Bert B.A and Küry, Sébastien and Rosenfeld, Jill A and ... and ADNP Consortium
Biological Psychiatry, ISSN 0006-3223, 02/2019, Volume 85, Issue 4, pp. 287 - 297
In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the gene are consistently reported among the... 
Autism | Genetics | Helsmoortel-Van der Aa syndrome | Intellectual disability | ADNP | Neurodevelopmental disorder | DEPENDENT NEUROPROTECTIVE PROTEIN | PHENOTYPE | RISK | DEFINE | NEUROSCIENCES | DE-NOVO MUTATIONS | GENES
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 2014, Volume 124, Issue 3, pp. 1214 - 1227
Journal Article
Ultrasound in Obstetrics and Gynecology, ISSN 0960-7692, 06/2017, Volume 49, Issue 6, p. 721–728
OBJECTIVE: This study aims to evaluate the application of non-invasive prenatal testing (NIPT) as an alternative to invasive diagnostic prenatal testing for... 
Journal Article
Journal Article
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 10/2016, Volume 24, Issue 10, pp. 1515 - 1515
Journal Article
Human Genetics, ISSN 0340-6717, 2016, Volume 135, Issue 5, pp. 569 - 586
Journal Article