No vessel wall abnormalities in a human foetus with a NOTCH3 mutation

بواسطة Lesnik Oberstein, Saskia A. J., Maat–Schieman, Marion L. C., Boon, Elles M. J., Haan, Joost, Breuning, Martijn H., van Duinen, Sjoerd G.
منشور في 2008

Second case of Bardet–Biedl syndrome caused by biallelic variants in IFT74

بواسطة Kleinendorst, Lotte, Alsters, Sanne I. M., Abawi, Ozair, Waisfisz, Quinten, Boon, Elles M. J., van den Akker, Erica L. T., van Haelst, Mieke M.
الحاوية / القاعدة Eur J Hum Genet (2020)

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

بواسطة Hestand, Matthew S., Bessem, Mark, van Rijn, Peter, de Menezes, Renee X., Sie, Daoud, Bakker, Ingrid, Boon, Elles M. J., Sistermans, Erik A., Weiss, Marjan M.
الحاوية / القاعدة Eur J Hum Genet (2018)

A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis

بواسطة Grasso, Marina, Boon, Elles M.J., Filipovic-Sadic, Stela, van Bunderen, Patrick A., Gennaro, Elena, Cao, Ru, Latham, Gary J., Hadd, Andrew G., Coviello, Domenico A.
منشور في 2014

Mrassf1a-Pap, a Novel Methylation-Based Assay for the Detection of Cell-Free Fetal DNA in Maternal Plasma

بواسطة van den Oever, Jessica M. E., Balkassmi, Sahila, Segboer, Tim, Verweij, E. Joanne, van der Velden, Pieter A., Oepkes, Dick, Bakker, Egbert, Boon, Elles M. J.
منشور في 2013

Comparing methods for fetal fraction determination and quality control of NIPT samples

بواسطة van Beek, Daphne M., Straver, Roy, Weiss, Marian M., Boon, Elles M. J., Huijsdens‐van Amsterdam, Karin, Oudejans, Cees B. M., Reinders, Marcel J. T., Sistermans, Erik A.
الحاوية / القاعدة Prenat Diagn (2017)

Response to letter to the editor PD‐17‐0390, a comment on “Comparing methods for fetal fraction determination and quality control of NIPT samples”

بواسطة van Beek, Daphne M., Straver, Roy, Weiss, Marjan M., Boon, Elles M.J., Huijsdens‐van Amsterdam, Karin, Oudejans, Cees B.M., Reinders, Marcel J.T., Sistermans, Erik A.
الحاوية / القاعدة Prenat Diagn (2017)

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

بواسطة Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Boon, Elles M. J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, van Langen, Irene M., Sinke, Richard J., te Meerman, Gerard J.
الحاوية / القاعدة Sci Rep (2016)

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

بواسطة Kleinendorst, Lotte, Abawi, Ozair, van der Voorn, Bibian, Jongejan, Mieke H. T. M., Brandsma, Annelies E., Visser, Jenny A., van Rossum, Elisabeth F. C., van der Zwaag, Bert, Alders, Mariëlle, Boon, Elles M. J., van Haelst, Mieke M., van den Akker, Erica L. T.
الحاوية / القاعدة PLoS One (2020)

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

بواسطة Kleinendorst, Lotte, Abawi, Ozair, van der Voorn, Bibian, Jongejan, Mieke H. T. M., Brandsma, Annelies E., Visser, Jenny A., van Rossum, Elisabeth F. C., van der Zwaag, Bert, Alders, Mariëlle, Boon, Elles M. J., van Haelst, Mieke M., van den Akker, Erica L. T.
الحاوية / القاعدة PLoS One (2020)

APOE ɛ2 is associated with white matter hyperintensity volume in CADASIL

بواسطة Gesierich, Benno, Opherk, Christian, Rosand, Jonathan, Gonik, Mariya, Malik, Rainer, Jouvent, Eric, Hervé, Dominique, Adib-Samii, Poneh, Bevan, Steve, Pianese, Luigi, Silvestri, Serena, Dotti, Maria T, De Stefano, Nicola, van der Grond, Jeroen, Boon, Elles M J, Pescini, Francesca, Rost, Natalia, Pantoni, Leonardo, Lesnik Oberstein, Saskia A, Federico, Antonio, Ragno, Michele, Markus, Hugh S, Tournier-Lasserve, Elisabeth, Chabriat, Hugues, Dichgans, Martin, Duering, Marco, Ewers, Michael
الحاوية / القاعدة J Cereb Blood Flow Metab (2016)

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part I—clinical impact

بواسطة Oepkes, Dick, Page‐Christiaens, G. C. (Lieve), Bax, Caroline J., Bekker, Mireille N., Bilardo, Catia M., Boon, Elles M. J., Schuring‐Blom, G. Heleen, Coumans, Audrey B. C., Faas, Brigitte H., Galjaard, Robert‐Jan H., Go, Attie T., Henneman, Lidewij, Macville, Merryn V. E., Pajkrt, Eva, Suijkerbuijk, Ron F., Huijsdens‐van Amsterdam, Karin, Van Opstal, Diane, Verweij, E. J. (Joanne), Weiss, Marjan M., Sistermans, Erik A.
الحاوية / القاعدة Prenat Diagn (2016)

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

بواسطة Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E., Breen, Catherine, Oegema, Renske, Weiss, Marjan M.M., Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A., Boon, Elles M.J., Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T., Scarano, Maria, Schaefer, G. Bradley, Brooks, Susan S., Hughes, Susan Starling, van Gassen, K.L.I., van Hagen, Johanna M., Pandita, Tej K., Agrawal, Pankaj B., Campeau, Philippe M., Yang, Xiang-Jiao
الحاوية / القاعدة J Clin Invest (2020)

TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

بواسطة van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., Knapen, Maarten F.C.M., Kooper, Angelique J.A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F.C.M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E.M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.
الحاوية / القاعدة Am J Hum Genet (2019)