المؤلفون: de Groot-van der Mooren, Maurike, de Graaf, Gert, Weijerman, Michel E., Hoffer, Mariette J. V., Knijnenburg, Jeroen, van der Kevie-Kersemaekers, Anne-Marie M. F., Kooper, Angelique J. A., Voorhoeve, Els, Sikkema-Raddatz, Birgit, van Zutven, Laura J. C. M., Srebniak, Malgorzata Ilona, Huijsdens-van Amsterdam, Karin, Engelen, John J. M., Smeets, Dominique, van Kaam, Anton H., Cornel, Martina C.

المصدر: de Groot-van der Mooren , M , de Graaf , G , Weijerman , M E , Hoffer , M J V , Knijnenburg , J , van der Kevie-Kersemaekers , A-M M F , Kooper , A J A , Voorhoeve , E , Sikkema-Raddatz , B , van Zutven , L J C M , Srebniak , M I , Huijsdens-van Amsterdam , K , Engelen , J J M , Smeets , D , van Kaam , A H & Cornel , M C 2021 , ' Does non-invasive prenatal testing affect the livebirth prevalence of ....

العلاقة: https://research.vumc.nl/en/publications/2d7a2380-52ed-470c-a6df-3a196ca2140cTest

الإتاحة: https://doi.org/10.1002/pd.6003Test
https://research.vumc.nl/en/publications/2d7a2380-52ed-470c-a6df-3a196ca2140cTest
http://www.scopus.com/inward/record.url?scp=85109092446&partnerID=8YFLogxKTest

المؤلفون: van Uum, Chris M. J., Stevens, Servi J. C., Dreesen, Joseph C. F. M., Drusedau, Marion, Smeets, Hubert J., Hollanders-Crombach, Bertien, de Die-Smulders, Christine E. M., Geraedts, Joep P. M., Engelen, John J. M., Coonen, Edith

المصدر: van Uum , C M J , Stevens , S J C , Dreesen , J C F M , Drusedau , M , Smeets , H J , Hollanders-Crombach , B , de Die-Smulders , C E M , Geraedts , J P M , Engelen , J J M & Coonen , E 2012 , ' SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations ' , European Journal of Human Genetics , vol. 20 , no. 9 , pp. 938-944 . https://doi.org/10.1038/ejhg.2012.27Test

مصطلحات موضوعية: preimplantation genetic diagnosis, SNP array, chromosomal translocations, whole-genome amplification, genotyping, blastomeres

الإتاحة: https://doi.org/10.1038/ejhg.2012.27Test
https://cris.maastrichtuniversity.nl/en/publications/b9f3e9a1-b104-4523-b554-a9ad3f55c09fTest

المؤلفون: Sinnema, Margje, van Roozendaal, Kees E. P., Maaskant, Marian A., Smeets, Hubert J. M., Engelen, John J. M., Jonker-Houben, Nieke, Schrander-Stumpel, Constance T. R. M., Curfs, Leopold M. G.

المصدر: Sinnema , M , van Roozendaal , K E P , Maaskant , M A , Smeets , H J M , Engelen , J J M , Jonker-Houben , N , Schrander-Stumpel , C T R M & Curfs , L M G 2010 , ' Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly ' , European Journal of Human Genetics , vol. 18 , no. 9 , pp. 993-998 . https://doi.org/10.1038/ejhg.2010.67Test

مصطلحات موضوعية: Prader-Willi syndrome, genetic subtypes, ageing

الإتاحة: https://doi.org/10.1038/ejhg.2010.67Test
https://cris.maastrichtuniversity.nl/en/publications/a7978396-77ab-4e53-939a-64d7a09d5cc3Test

المؤلفون: Paulussen, A DC, Schrander-Stumpel, Connie, Tserpelis, D, Spee, K, Stegmann, Sander, Mancini, Grazia Maria Stefania, Brooks, Alice S, Collée, J M, Maat-Kievit, Anneke, Simon, M EH, Van Bever, Yolande, Stolte-Dijkstra, Irene, Kerstjens-Frederikse, W S, Herkert, J C, Van Essen, Ton J., Lichtenbelt, K D, Van Haeringen, Arie, Kwee, Mei Lan, Lachmeijer, A. M.A., Tan-Sindhunata, M.B., Van Maarle, Merel, Arens, Y H, Smeets, Eric, De Die-Smulders, Christine E.M., Engelen, John J, Smeets, Bert, Herbergs, J

المساهمون: Department of Clinical Genetics

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: Holoprosencephaly, genotype-phenotype, mutations

العلاقة: hal-00544822; https://hal.archives-ouvertes.fr/hal-00544822Test; https://hal.archives-ouvertes.fr/hal-00544822/documentTest; https://hal.archives-ouvertes.fr/hal-00544822/file/PEER_stage2_10.1038%252Fejhg.2010.70.pdfTest

الإتاحة: https://doi.org/10.1038/ejhg.2010.70Test
https://hal.archives-ouvertes.fr/hal-00544822Test
https://hal.archives-ouvertes.fr/hal-00544822/documentTest
https://hal.archives-ouvertes.fr/hal-00544822/file/PEER_stage2_10.1038%252Fejhg.2010.70.pdfTest

المؤلفون: de Groot‐van der Mooren, Maurike, de Graaf, Gert, Weijerman, Michel E, Hoffer, Mariette J. V, Knijnenburg, Jeroen, van der Kevie‐Kersemaekers, Anne‐Marie M. F, Kooper, Angelique J. A, Voorhoeve, Els, Sikkema‐Raddatz, Birgit, van Zutven, Laura J. C. M, Srebniak, Malgorzata Ilona, Huijsdens‐van Amsterdam, Karin, Engelen, John J. M, Smeets, Dominique, van Kaam, Anton H, Cornel, Martina C

المصدر: Prenatal Diagnosis; Sep2021, Vol. 41 Issue 10, p1351-1359, 9p

المؤلفون: Engelen, John J. M., Borm, Paul J. A., van Sprundel, Marc, Leenaerts, Luc

المصدر: Environmental Health Perspectives ; volume 84, page 165 ; ISSN 0091-6765

مصطلحات موضوعية: Health, Toxicology and Mutagenesis, Public Health, Environmental and Occupational Health

الإتاحة: https://doi.org/10.2307/3430718Test

المؤلفون: Stevens, Servi J. C., van Ravenswaaij-Arts, Conny M. A., Janssen, Jannie W. H., Wassink-Ruiter, Jolien S. Klein, van Essen, Anthonie J., Dijkhuizen, Trijnie, van Rheenen, Jeroen, Heuts-Vijgen, Regina, Stegmann, Alexander P. A., Smeets, Eric E. J. G. L., Engelen, John J. M.

المصدر: Stevens , S J C , van Ravenswaaij-Arts , C M A , Janssen , J W H , Wassink-Ruiter , J S K , van Essen , A J , Dijkhuizen , T , van Rheenen , J , Heuts-Vijgen , R , Stegmann , A P A , Smeets , E E J G L & Engelen , J J M 2011 , ' MYT1L is a Candidate Gene for Intellectual Disability in Patients With 2p25.3 (2pter) Deletions ' , American Journal of Medical Genetics Part A , vol. 155A , no. 11 , pp. 2739-2745 . ....

مصطلحات موضوعية: MYT1L, intellectual disability, SNP array, array-CGH, deletion 2p25.3 (2pter), neurogenesis

الإتاحة: https://doi.org/10.1002/ajmg.a.34274Test
https://cris.maastrichtuniversity.nl/en/publications/8d33a3d0-d6c1-49c9-ba25-85e7bbbeea09Test

المؤلفون: Hasson, Dan, Alonso, Alicia, Cheung, Fanny, Tepperberg, James H., Papenhausen, Peter R., Engelen, John J. M., Warburton, Peter E.

المصدر: Hasson , D , Alonso , A , Cheung , F , Tepperberg , J H , Papenhausen , P R , Engelen , J J M & Warburton , P E 2011 , ' Formation of novel CENP-A domains on tandem repetitive DNA and across chromosome breakpoints on human chromosome 8q21 neocentromeres ' , Chromosoma , vol. 120 , no. 6 , pp. 621-632 . https://doi.org/10.1007/s00412-011-0337-6Test

الإتاحة: https://doi.org/10.1007/s00412-011-0337-6Test
https://cris.maastrichtuniversity.nl/en/publications/328b8a4b-6584-4792-aa18-9c8c1b4f8051Test

المؤلفون: Stevens, Servi J. C., Meers, Laurence E. C., Albrechts, Jozefa C. M., Mebis-Verhees, Karien, Bos, Gerard M. J., Engelen, John J. M., Janssen, Jannie W. H.

المصدر: Stevens , S J C , Meers , L E C , Albrechts , J C M , Mebis-Verhees , K , Bos , G M J , Engelen , J J M & Janssen , J W H 2010 , ' A translocation in acute lymphoblastic leukemia that cytogenetically mimics the recurrent MLL-AFF1 translocation and fuses SEPT11 to MLL ' , Cancer Genetics and Cytogenetics , vol. 201 , no. 1 , pp. 48-51 . https://doi.org/10.1016Test/j.cancergencyto.2010.05.002

الإتاحة: https://doi.org/10.1016Test/j.cancergencyto.2010.05.002
https://cris.maastrichtuniversity.nl/en/publications/7e4995c2-3931-4264-8c2e-253364cfd5aeTest

المؤلفون: Brouns, Madeleine R., Peeters, Marian C.E., Geurts, Jan M., Merckx, Diane M., Engelen, John J., Hekking, Johan W.M., Terwindt-Rouwenhorst, Els A.W., Oosterbaan, Mariet E.A.C., Geraedts, Joep P.M., van Straaten, Henny W.

المصدر: Birth Defects Research Part A: Clinical and Molecular Teratology ; volume 73, issue 3, page 154-161 ; ISSN 1542-0752 1542-0760

الإتاحة: https://doi.org/10.1002/bdra.20109Test