المؤلفون: Jansen, F. A. R., Hoffer, M.J.V., van Velzen, C. L., Plati, S. K., Rijlaarsdam, Marry E. B., Clur, S.A.B., Blom, Nico A., Pajkrt, Eva, Bhola, S. L., Knegt, A.C., de Boer, M. A., Haak, M. C.

المصدر: Jansen , F A R , Hoffer , M J V , van Velzen , C L , Plati , S K , Rijlaarsdam , M E B , Clur , S A B , Blom , N A , Pajkrt , E , Bhola , S L , Knegt , A C , de Boer , M A & Haak , M C 2016 , ' Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects ' , Prenatal Diagnosis , vol. 36 , pp. 177-185 . https://doi.org/10.1002/pd.4767

الاتاحة: https://research.vumc.nl/en/publications/15e8114f-a749-4682-a4df-d2361b57ce57
https://doi.org/10.1002/pd.4767

المؤلفون: Verhoeven, W.M.A. (Wim), Egger, J.I.M. (Jos), Knegt, A.C. (Alida), Zuydam, J. (José), Kleefstra, T. (Tjitske)

المصدر: Neuropsychiatric Disease and Treatment vol. 12, pp. 1135-1139

مصطلحات موضوعية: 15q26.1 interstitial deletion, CHD2 gene, Epilepsy, Intellectual disability, Neuropsychology, Psychotic disorder

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/81097; urn:hdl:1765/81097

الاتاحة: http://repub.eur.nl/pub/81097
https://doi.org/10.2147/NDT.S102272

المؤلفون: Siljee, J.E. (Jacqueline), Knegt, A.C. (Alida), Knapen, M.F.C.M. (Maarten), Bekker, M.N. (Mireille), Visser, G.H. (Gerhard Henk), Schielen, P.C.J.I. (Peter)

المصدر: Prenatal Diagnosis vol. 34 no. 3, pp. 259-264

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/56390; urn:hdl:1765/56390

الاتاحة: http://repub.eur.nl/pub/56390
https://doi.org/10.1002/pd.4302

المؤلفون: Houten, S.M. (Sander M.), Te Brinke, H. (Heleen), Denis, S. (Simone), Ruiter, J.P.N. (Jos), Knegt, A.C. (Alida), Klerk, J.B.C. (Johannes) de, Augoustides-Savvopoulou, P. (Persa), Häberle, J. (Johannes), Baumgartner, M.R. (Matthias), Coşkun, T. (Turgay), Zschocke, J. (Johannes), Sass, J.O. (Jörn Oliver), Poll-The, B.T., Wanders, R.J.A. (Ronald), Duran, M. (Marinus)

المصدر: Orphanet Journal of Rare Diseases vol. 8 no. 1

مصطلحات موضوعية: Contiguous gene deletion syndrome, Hyperlysinemia, Inborn errors of metabolism, Lysine

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/61443; urn:hdl:1765/61443

الاتاحة: http://repub.eur.nl/pub/61443
https://doi.org/10.1186/1750-1172-8-57

المؤلفون: Kamijo, T., Milart, P., Wojcik, K., Szkodziak, P., Wozniak, S., Czuczwar, P., Paszkowski, T., Landolsi, H., Yacoubi, M.T., Stita, W., Gribaa, M., Hmissa, S., Molenaar, N., van Besouw, N.H., Steegers, E.A.P., Visser, W., de Kuiper, P., de Krijger, R., Exalto, N., Lagrand, R., Kaandorp, S.P., Mellink, C.H.M., van Wely, M., Redeker, E.J.W., Knegt, A.C., Goddijn, M., Vidal, C., Giles, J., Meseguer, M., Zuzuarregui, J.L., Bosch, E., Pellicer, A., Schust, D., Sugimoto, M., Sugimoto, J., Reus, A.D., Stephenson, M.D., Krijger de, R.R., Dunne van, F.M., Exacoustos, C., Vaquero, E., Di Giovanni, A., Romeo, V., Lazzarin, N., Arduini, D., Brahem, S., Mehdi, M., Atig, F., Ghedir, H., Ibala, S., Ajina, M., Saad, A., Chang, C., Wang, H., Huang, S., Pai, S., Soong, Y., Papanikolaou, E., Pantos, G., Grimbizis, G., Bili, E., Polyzos, N., Karastefanou, K., Humaidan, P., Esteves, S., Tarlatzis, B., McNamee, K., Topping, A., Farquharson, R.G., Dawood, F., Ruiz Galdon, M., Lendínez, A.M., Palomares, A.R., Martínez, F., Perez-Nevot, B., Jiménez Fernández, A., Reyes-Engel, A., Horcajadas, J.A., Savaris, R.F., Kovac, V., Reljic, M., Vlaisavljevic, V., Colicchia, A., Pergolini, I., Gilio, B., Rampini, M.R., Alfano, P., Marconi, D., Verlengia, C., Alviggi, E., Bellver, J., Cruz, F., Martinez, M.C., Ramirez, J., Ferro, J., Garrido, N., Brown, J.K., Lauer, K.B., Inglis, N.F., Critchley, H.O.D., Horne, A.W., Samli, H., Cetinkaya Demir, B., Ozgoz, A., Atalay, M.A., Uncu, G., Yan, Y., Cai-hong, M.A., Jie, Q.I.A.O., Xin-na, C.H.E.N., Weimar, C.H.E., Kavelaars, A., Gellersen, B., Brosens, J.J., de Vreeden-Elbertse, J.M.T., Heijnen, C.J., Macklon, N.S., Castillo, J.C., Dolz, M., Caballero, O., Abad, L., Perez-Panadés, J., Bonilla-Musoles, F., Eggert - Kruse, W., Scholz, S., Klopsch, I., Strowitzki, T.

مصطلحات موضوعية: Poster Presentations

وصف الملف: text/html

Relation: http://humrep.oxfordjournals.org/cgi/content/short/26/suppl_1/i151; http://dx.doi.org/10.1093/humrep/26.s1.78

الاتاحة: http://humrep.oxfordjournals.org/cgi/content/short/26/suppl_1/i151
https://doi.org/10.1093/humrep/26.s1.78

المؤلفون: van den Boogaard, E., Hermens, R.P.M.G., Verhoeve, H.R., Kremer, J.A.M., van der Veen, F., Knegt, A.C., Goddijn, M.

مصطلحات موضوعية: Early pregnancy

وصف الملف: text/html

Relation: http://humrep.oxfordjournals.org/cgi/content/short/26/8/1965; http://dx.doi.org/10.1093/humrep/der179

الاتاحة: http://humrep.oxfordjournals.org/cgi/content/short/26/8/1965
https://doi.org/10.1093/humrep/der179

المؤلفون: Mizrak, S.C., Chikhovskaya, J.V., Sadri-Ardekani, H., van Daalen, S., Korver, C.M., Hovingh, S.E., Roepers-Gajadien, H.L., Raya, A., Fluiter, K., de Reijke, Th.M., de la Rosette, J.J.M.C.H., Knegt, A.C., Belmonte, J.C., van der Veen, F., de Rooij, D.G., Repping, S., van Pelt, A.M.M.

مصطلحات موضوعية: Reproductive biology

وصف الملف: text/html

Relation: http://humrep.oxfordjournals.org/cgi/content/short/25/1/158; http://dx.doi.org/10.1093/humrep/dep354

الاتاحة: http://humrep.oxfordjournals.org/cgi/content/short/25/1/158
https://doi.org/10.1093/humrep/dep354

المؤلفون: Nisselrooij, A.E.L. van, Lugthart, M.A., Clur, S.A., Linskens, I.H., Pajkrt, E., Rammeloo, L.A., Rozendaal, L., Blom, N.A., Lith, J.M.M. van, Knegt, A.C., Hoffer, M.J.V., Aten, E., Santen, G.W.E., Haak, M.C.

المصدر: Genetics in Medicine

مصطلحات موضوعية: genetic syndrome, congenital heart defects, prenatal counseling, chromosome microarray analysis, exome sequencing

وصف الملف: application/pdf

Relation: https://www.sciencedirect.com/science/article/pii/S1098360021011862?via%3Dihub; lumc-id: 107752126; https://hdl.handle.net/1887/3182154

الاتاحة: https://hdl.handle.net/1887/3182154
https://www.sciencedirect.com/science/article/pii/S1098360021011862?via%3Dihub
https://doi.org/10.1038/s41436-020-0791-8

المؤلفون: Franssen, M.T., Korevaar, J.C., Leschot, N.J., Bossuyt, P.M., Knegt, A.C., Gerssen-Schoorl, KBJ, Wouters, CH, Hansson, K.B., Hochstenbach, P.F.R., Madan, K., van der Veen, F, Goddijn, M.

المساهمون: Genetica

وصف الملف: image/pdf

Relation: https://dspace.library.uu.nl/handle/1874/13703

الاتاحة: https://dspace.library.uu.nl/handle/1874/13703

المؤلفون: Goddijn, M., Joosten, J.H.K., Knegt, A.C., van derVeen, F., Franssen, M.T.M., Bonsel, G.J., Leschot, N.J.

مصطلحات موضوعية: Early pregnancy

وصف الملف: text/html

Relation: http://humrep.oxfordjournals.org/cgi/content/short/19/4/1013; http://dx.doi.org/10.1093/humrep/deh172

الاتاحة: http://humrep.oxfordjournals.org/cgi/content/short/19/4/1013
https://doi.org/10.1093/humrep/deh172

المؤلفون: Huijsdens-van Amsterdam, Karin, Straver, R., Maarle, Merel C. van, Knegt, A.C., Opstal, D. Van, Sleutels, F., Smeets, D.F., Sistermans, Erik A.

المصدر: Genetics in Medicine, 20, 11, pp. 1472-1476

مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences

Relation: http://hdl.handle.net/2066/199494; https://doi.org/10.1038/gim.2018.32

الاتاحة: http://hdl.handle.net/2066/199494
https://doi.org/10.1038/gim.2018.32

المؤلفون: Heesch, S. van, Simonis, M., Roosmalen, M.J. van, Pillalamarri, V., Brand, H., Kuijk, E.W., Luca, K.L. de, Lansu, N., Braat, A.K., Menelaou, A., Hao, W., Korving, J., Snijder, S., Veken, L.T. van der, Hochstenbach, R., Knegt, A.C., Duran, K., Renkens, I., Alekozai, N., Jager, M. de, Vergult, S., Menten, B., Bruijn, E. de, Boymans, S., Ippel, E., Binsbergen, E. van, Talkowski, M.E., Lichtenbelt, K., Cuppen, E., Kloosterman, W.P.

المصدر: Cell Reports, 9, 6, pp. 2001-10

مصطلحات موضوعية: Radboudumc 11: Renal disorders RIMLS: Radboud Institute for Molecular Life Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/139109/139109.pdf; http://hdl.handle.net/2066/139109

الاتاحة: http://hdl.handle.net/2066/139109
https://repository.ubn.ru.nl//bitstream/handle/2066/139109/139109.pdf
https://doi.org/10.1016/j.celrep.2014.11.022

المؤلفون: Moller, R.S., Jensen, L.R., Maas, S.M., Filmus, J., Capurro, M., Hansen, C., Marcelis, C.L.M., Ravn, K., Andrieux, J., Mathieu, M., Kirchhoff, M., Rodningen, O.K., Leeuw, N. de, Yntema, H.G., Froyen, G., Vandewalle, J., Ballon, K., Klopocki, E., Joss, S., Tolmie, J., Knegt, A.C., Lund, A.M., Hjalgrim, H., Kuss, A.W., Tommerup, N., Ullmann, R., Brouwer, A.P.M. de, Stromme, P., Kjaergaard, S., Tumer, Z., Kleefstra, T.

المصدر: Human Genetics, 133, 5, pp. 625-38

مصطلحات موضوعية: Radboudumc 0: Other Research RIHS: Radboud Institute for Health Sciences, Radboudumc 12: Sensory disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: http://hdl.handle.net/2066/137229

الاتاحة: http://hdl.handle.net/2066/137229
https://doi.org/10.1007/s00439-013-1403-3

المؤلفون: Verhoeven, W.M.A., Egger, J.I.M., Knegt, A.C., Zuydam, J., Kleefstra, T.

المصدر: Neuropsychiatric Disease and Treatment; 1135; 1139; 1178-2021; 12; ~Neuropsychiatric Disease and Treatment~1135~1139~~~1178-2021~~12~~

URL: http://hdl.handle.net/2066/167606

المؤلفون: Hopman, S.M.J., Merks, J.H.M., Bijlsma, E.K., Boot, H., Knegt, A.C., Langenhorst, V., Schoenaker, M.H.D., Stuurman, K.E., Verheij, J.B.G.M., Wagner, A., Weesmaes, C.M., Zwijnenburg, P.J.G., Michiels, E., Kluijt, I.

المصدر: Hopman , S M J , Merks , J H M , Bijlsma , E K , Boot , H , Knegt , A C , Langenhorst , V , Schoenaker , M H D , Stuurman , K E , Verheij , J B G M , Wagner , A , Weesmaes , C M , Zwijnenburg , P J G , Michiels , E & Kluijt , I 2013 , ' Het Bloom-syndroom in Nederland ' , Tijdschrift voor Kindergeneeskunde , vol. 81 , no. 6 , pp. 148-158 . https://doi.org/10.1007/s12456-013-0178-8

الاتاحة: https://research.vumc.nl/en/publications/71100169-356e-43fd-a175-e07874d270f2
https://doi.org/10.1007/s12456-013-0178-8

المؤلفون: Huijsdens-van Amsterdam, K., Barge-Schaapveld, D.Q.C.M., Mathijssen, I.B., Alders, M., Pajkrt, E., Knegt, A.C.

المصدر: Molecular Cytogenetics

مصطلحات موضوعية: double autosomal aneuploidy, mosaicism, trisomy 7, trisomy 13

Relation: lumc-id: 3356680; https://hdl.handle.net/1887/98957

الاتاحة: https://hdl.handle.net/1887/98957
https://doi.org/10.1186/1755-8166-5-8

المؤلفون: Boormans, E.M.A., Birnie, E., Knegt, A.C., Schuring-Blom, G.H., Bonsel, G.J., Lith, J.M.M. van

المصدر: Prenatal Diagnosis

مصطلحات موضوعية: prenatal diagnosis targeted testing, karyotyping rapid aneuploidy detection nominal group technique

Relation: lumc-id: 5688154; https://hdl.handle.net/1887/117921

الاتاحة: https://hdl.handle.net/1887/117921
https://doi.org/10.1002/pd.2609

المؤلفون: Bliek, J., Snijder, S., Maas, S.M., Polstra, A., van der Lip, K., Alders, M., Knegt, A.C., Mannens, M.M.A.M.

المصدر: European Journal of Medical Genetics ; volume 52, issue 6, page 404-408 ; ISSN 1769-7212

الاتاحة: http://dx.doi.org/10.1016/j.ejmg.2009.08.006
https://api.elsevier.com/content/article/PII:S1769721209001268?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1769721209001268?httpAccept=text/plain

المؤلفون: Huizen, M.E. van, Pighetti, M., Bijlsma, E.K., Knegt, A.C., Bilardo, C.M.

المصدر: Ultrasound in Obstetrics & Gynecology, 26, 7, pp. 793-4

مصطلحات موضوعية: EBP 2: Effective Hospital Care, UMCN 5.2: Endocrinology and reproduction

Relation: http://hdl.handle.net/2066/48073; https://doi.org/10.1002/uog.2642

الاتاحة: http://hdl.handle.net/2066/48073
https://doi.org/10.1002/uog.2642

المؤلفون: Siljee, J.E., Knegt, A.C., Knapen, M.F.C.M., Bekker, M.N., Visser, G.H.A., Schielen, P.C.

المصدر: Prenatal Diagnosis; 259; 64; 0197-3851; 3; vol. 34; ~Prenatal Diagnosis~259~64~~~0197-3851~3~34~~

URL: http://hdl.handle.net/2066/136553