المؤلفون: Tromp, Tycho R., Reijman, M. Doortje, Wiegman, Albert, Hovingh, G. Kees, Defesche, Joep C., van Maarle, Merel C., Mathijssen, Inge B.

المصدر: Tromp , T R , Reijman , M D , Wiegman , A , Hovingh , G K , Defesche , J C , van Maarle , M C & Mathijssen , I B 2023 , ' Counseling couples at risk of having a child with homozygous familial hypercholesterolemia – Clinical experience and recommendations ' , Journal of clinical lipidology , vol. 17 , no. 2 , pp. 291-296 . https://doi.org/10.1016/j.jacl.2022.12.006

الاتاحة: https://research.vumc.nl/en/publications/19a0f2bf-fcfb-4e81-a189-29e08a75b826
https://doi.org/10.1016/j.jacl.2022.12.006
http://www.scopus.com/inward/record.url?scp=85146012102&partnerID=8YFLogxK

المؤلفون: van Ouwerkerk, Antoinette F, Bosada, Fernanda M, van Duijvenboden, Karel, Houweling, Arjan C, Scholman, Koen T, Wakker, Vincent, Allaart, Cornelis P, Uhm, Jae-Sun, Mathijssen, Inge B, Baartscheer, Ton, Postma, Alex V, Barnett, Phil, Verkerk, Arie O, Boukens, Bastiaan J, Christoffels, Vincent M

المصدر: van Ouwerkerk , A F , Bosada , F M , van Duijvenboden , K , Houweling , A C , Scholman , K T , Wakker , V , Allaart , C P , Uhm , J-S , Mathijssen , I B , Baartscheer , T , Postma , A V , Barnett , P , Verkerk , A O , Boukens , B J & Christoffels , V M 2022 , ' Patient-specific TBX5-G125R Variant Induces Profound Transcriptional Deregulation and Atrial Dysfunction ' , Circulation , vol. 145 , no. 8 , pp. 606-619 . https://doi.org/10.1161/CIRCULATIONAHA.121.054347

الاتاحة: https://research.vumc.nl/en/publications/cbeb43b4-0eb2-46b1-bde7-c6a7b6b1435e
https://doi.org/10.1161/CIRCULATIONAHA.121.054347
http://www.scopus.com/inward/record.url?scp=85125020282&partnerID=8YFLogxK

المؤلفون: van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Umićević Mirkov, Maša, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu'Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.

المصدر: van Walree , E S , Dombrowsky , G , Jansen , I E , Umićević Mirkov , M , Zwart , R , Ilgun , A , Guo , D , Clur , S-A B , Amin , A S , Savage , J E , van der Wal , A C , Waisfisz , Q , Maugeri , A , Wilsdon , A , Bu'Lock , F A , Hurles , M E , Dittrich , S , Berger , F , Audain Martinez , E , Christoffels , V M , Hitz , M-P , Milewicz ....

Relation: https://research.vumc.nl/en/publications/33142b59-54ba-4af6-96a2-66a4c46c4931

الاتاحة: https://research.vumc.nl/en/publications/33142b59-54ba-4af6-96a2-66a4c46c4931
https://doi.org/10.1016/j.gim.2022.01.018
http://www.scopus.com/inward/record.url?scp=85127899623&partnerID=8YFLogxK

المؤلفون: Wegler, Meret, Jia, Xiangbin, Alders, Marielle, Bouman, Arjan, Chen, Jia, Duan, Xinyu, Lauzon, Julie L., Mathijssen, Inge B., Sticht, Heinrich, Syrbe, Steffen, Tan, Senwei, Guo, Hui, Abou Jamra, Rami

المصدر: Wegler , M , Jia , X , Alders , M , Bouman , A , Chen , J , Duan , X , Lauzon , J L , Mathijssen , I B , Sticht , H , Syrbe , S , Tan , S , Guo , H & Abou Jamra , R 2022 , ' De novo variants in the PABP domain of PABPC1 lead to developmental delay ' , Genetics in Medicine , vol. 24 , no. 8 , pp. 1761-1773 . https://doi.org/10.1016/j.gim.2022.04.013

الاتاحة: https://pure.eur.nl/en/publications/2cf61f83-3b49-4364-a062-7e730ed95f3a
https://doi.org/10.1016/j.gim.2022.04.013
http://www.scopus.com/inward/record.url?scp=85129776878&partnerID=8YFLogxK

المؤلفون: Vulto-van Silfhout, Anneke T, Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A, Hu, Hao, Bienek, Melanie, Vissers, Lisenka ELM, Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B, Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K, Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M, Yntema, Helger G, Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert BA, Brunner, Han G, van Bokhoven, Hans, Raymond, F Lucy, Willemsen, Michèl AAP, Chelly, Jamel, Xiong, Yue, Barkovich, A James, Kalscheuer, Vera M, Kleefstra, Tjitske, de Brouwer, Arjan PM

المصدر: Human Mutation. 36(1)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Neurosciences, Pediatric, Rare Diseases, Congenital Structural Anomalies, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Adult, Brain, Cell Cycle Proteins, Cells, Cultured, Child, Child, Preschool, Cullin Proteins, Genetic Association Studies, HEK293 Cells, Humans, Infant, Male, Malformations of Cortical Development, Mental Retardation, X-Linked, Middle Aged, Nerve Tissue Proteins, Pedigree, Sequence Analysis, DNA, Young Adult, CUL4B, WDR62, cortical dysplasia, hydrocephalus, intellectual disability, mutation, Clinical Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7h5466vk

المؤلفون: van Dijke, Ivy, Lakeman, Phillis, Sabiri, Naoual, Rusticus, Hanna, Ottenheim, Cecile P. E., Mathijssen, Inge B., Cornel, Martina C., Henneman, Lidewij

المصدر: van Dijke , I , Lakeman , P , Sabiri , N , Rusticus , H , Ottenheim , C P E , Mathijssen , I B , Cornel , M C & Henneman , L 2021 , ' Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer ' , European Journal of Human Genetics , vol. 29 , no. 8 , pp. 1252-1258 . https://doi.org/10.1038/s41431-021-00923-9 , https://doi.org/10.1038/s41431-021-00923-9

الاتاحة: https://research.vumc.nl/en/publications/7efd0b80-2dec-43f4-ae1c-f5124991edd8
https://doi.org/10.1038/s41431-021-00923-9
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85108825776&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/34155360

المؤلفون: van Walree, Eva S., Dombrowsky, Gregor, Jansen, Iris E., Mirkov, Maša Umićević, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B., Amin, Ahmed S., Savage, Jeanne E., van der Wal, Allard C., Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu’Lock, Frances A., Hurles, Matthew E., Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M., Hitz, Marc-Philip, Milewicz, Dianna M., Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V., Mathijssen, Inge B.

المصدر: van Walree , E S , Dombrowsky , G , Jansen , I E , Mirkov , M U , Zwart , R , Ilgun , A , Guo , D , Clur , S-A B , Amin , A S , Savage , J E , van der Wal , A C , Waisfisz , Q , Maugeri , A , Wilsdon , A , Bu’Lock , F A , Hurles , M E , Dittrich , S , Berger , F , Audain Martinez , E , Christoffels , V M , Hitz , M-P , Milewicz ....

الاتاحة: https://research.vumc.nl/en/publications/9c376ad2-4d1b-426d-af73-d998f1c9f970
https://doi.org/10.1038/s41436-020-00939-4
http://www.scopus.com/inward/record.url?scp=85089679043&partnerID=8YFLogxK

المؤلفون: van Dijke, Ivy, Lakeman, Phillis, Mathijssen, Inge B., Goddijn, Mariette, Cornel, Martina C., Henneman, Lidewij

المصدر: van Dijke , I , Lakeman , P , Mathijssen , I B , Goddijn , M , Cornel , M C & Henneman , L 2021 , ' How will new genetic technologies, such as gene editing, change reproductive decision-making? Views of high-risk couples ' , European Journal of Human Genetics , vol. 29 , no. 1 , pp. 39-50 . https://doi.org/10.1038/s41431-020-00706-8

Relation: https://research.vumc.nl/en/publications/dabc15a9-b5e6-41ff-affe-999536662691

الاتاحة: https://research.vumc.nl/en/publications/dabc15a9-b5e6-41ff-affe-999536662691
https://doi.org/10.1038/s41431-020-00706-8
http://www.scopus.com/inward/record.url?scp=85089155666&partnerID=8YFLogxK

المؤلفون: Van De Weghe, Julie C., Giordano, Jessica L., Mathijssen, Inge B., Mojarrad, Majid, Lugtenberg, Dorien, Miller, Caitlin V., Dempsey, Jennifer C., Mohajeri, Mahsa Sadat Asl, van Leeuwen, Elizabeth, Pajkrt, Eva, Klaver, Caroline C.W., Houlden, Henry, Eslahi, Atieh, Waters, Aoife M., Bamshad, Michael J., Nickerson, Deborah A., Aggarwal, Vimla S., de Vries, Bert B.A., Maroofian, Reza, Doherty, Dan

المصدر: Van De Weghe , J C , Giordano , J L , University of Washington Center for Mendelian Genomics , Mathijssen , I B , Mojarrad , M , Lugtenberg , D , Miller , C V , Dempsey , J C , Mohajeri , M S A , van Leeuwen , E , Pajkrt , E , Klaver , C C W , Houlden , H , Eslahi , A , Waters , A M , Bamshad , M J , Nickerson , D A , Aggarwal , V S , de Vries , B B A , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/04794e1a-bee8-4148-9db8-ff96ee3143ed
https://doi.org/10.1016/j.xhgg.2020.100016
https://pure.eur.nl/ws/files/82135156/1_s2.0_S2666247720300166_main.pdf
http://www.scopus.com/inward/record.url?scp=85102947276&partnerID=8YFLogxK

المؤلفون: Priolo, Manuela, Schanze, Denny, Tatton-Brown, Katrin, Mulder, Paul A., Tenorio, Jair, Kooblall, Kreepa, Acero, Inés Hernández, Alkuraya, Fowzan S., Arias, Pedro, Bernardini, Laura, Bijlsma, Emilia K., Cole, Trevor, Coubes, Christine, Dapia, Irene, Davies, Sally, di Donato, Nataliya, Elcioglu, Nursel H., Fahrner, Jill A., Foster, Alison, González, Noelia García, Huber, Ilka, Iascone, Maria, Kaiser, Ann-Sophie, Kamath, Arveen, Liebelt, Jan, Lynch, Sally Ann, Maas, Saskia M., Mammì, Corrado, Mathijssen, Inge B., McKee, Shane, Menke, Leonie A., Mirzaa, Ghayda M., Montgomery, Tara, Neubauer, Dorothee, Neumann, Thomas E., Pintomalli, Letizia, Pisanti, Maria Antonietta, Plomp, Astrid S., Price, Sue, Salter, Claire, Santos-Simarro, Fernando, Sarda, Pierre, Segovia, Mabel, Shaw-Smith, Charles, Smithson, Sarah, Suri, Mohnish, Valdez, Rita Maria, van Haeringen, Arie, van Hagen, Johanna M., Zollino, Marcela, Lapunzina, Pablo, Thakker, Rajesh V., Zenker, Martin, Hennekam, Raoul C.

المصدر: Priolo , M , Schanze , D , Tatton-Brown , K , Mulder , P A , Tenorio , J , Kooblall , K , Acero , I H , Alkuraya , F S , Arias , P , Bernardini , L , Bijlsma , E K , Cole , T , Coubes , C , Dapia , I , Davies , S , di Donato , N , Elcioglu , N H , Fahrner , J A , Foster , A , González , N G , Huber , I , Iascone , M , Kaiser , A-S ....

الاتاحة: https://research.vumc.nl/en/publications/b51abaf1-a088-4c33-af1f-bf8f7db72c2a
https://doi.org/10.1002/humu.23563
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85052512391&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/29897170

المؤلفون: Mathijssen, Inge B., Holtkamp, Kim C. A., Ottenheim, Cecile P. E., van Eeten-Nijman, Janneke M. C., Lakeman, Phillis, Meijers-Heijboer, Hanne, van Maarle, Merel C., Henneman, Lidewij

المصدر: European Journal of Human Genetics ; volume 26, issue 2, page 166-175 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-017-0056-4
http://www.nature.com/articles/s41431-017-0056-4
http://www.nature.com/articles/s41431-017-0056-4.pdf

المؤلفون: van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P., Wanders, Ronald J. A., Lamont, Ryan E., Baas, Frank

المصدر: European Journal of Human Genetics ; volume 26, issue 12, page 1752-1758 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/s41431-018-0233-0
http://www.nature.com/articles/s41431-018-0233-0.pdf
http://www.nature.com/articles/s41431-018-0233-0

المؤلفون: Holtkamp, Kim C. A., Mathijssen, Inge B., Lakeman, Phillis, van Maarle, Merel C., Dondorp, Wybo J., Henneman, Lidewij, Cornel, Martina C.

المصدر: Holtkamp , K C A , Mathijssen , I B , Lakeman , P , van Maarle , M C , Dondorp , W J , Henneman , L & Cornel , M C 2017 , ' Factors for successful implementation of population-based expanded carrier screening : learning from existing initiatives ' , European Journal of Public Health , vol. 27 , no. 2 , pp. 372-377 . https://doi.org/10.1093/eurpub/ckw110

مصطلحات موضوعية: TAY-SACHS-DISEASE, CYSTIC-FIBROSIS, MEDICAL-GENETICS, BETA-THALASSEMIA, DOR YESHORIM, DECISIONS, ATTITUDES, HEMOGLOBINOPATHIES, PARTICIPATION, DISORDERS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/d7c91295-a53b-4aea-87b8-75669640e969
https://doi.org/10.1093/eurpub/ckw110

المؤلفون: Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne

المساهمون: ZonMw

المصدر: Journal of Community Genetics ; volume 8, issue 4, page 327-333 ; ISSN 1868-310X 1868-6001

الاتاحة: http://dx.doi.org/10.1007/s12687-017-0309-5
http://link.springer.com/article/10.1007/s12687-017-0309-5/fulltext.html
http://link.springer.com/content/pdf/10.1007/s12687-017-0309-5.pdf

المؤلفون: Fountain, Michael D., Aten, Emmelien, Cho, Megan T., Juusola, Jane, Walkiewicz, Magdalena A., Ray, Joseph W., Xia, Fan, Yang, Yaping, Graham, Brett H., Bacino, Carlos A., Potocki, Lorraine, van Haeringen, Arie, Ruivenkamp, Claudia A.L., Mancias, Pedro, Northrup, Hope, Kukolich, Mary K., Weiss, Marjan M., van Ravenswaaij-Arts, Conny M.A., Mathijssen, Inge B., Levesque, Sebastien, Meeks, Naomi, Rosenfeld, Jill A., Lemke, Danielle, Hamosh, Ada, Lewis, Suzanne K., Race, Simone, Stewart, Laura L., Hay, Beverly, Lewis, Andrea M., Guerreiro, Rita L., Bras, Jose T., Martins, Marcia P., Derksen-Lubsen, Gerarda, Peeters, Els, Stumpel, Connie, Stegmann, Sander, Bok, Levinus A., Santen, Gijs W.E., Schaaf, Christian P.

المصدر: Genetics in Medicine ; volume 19, issue 1, page 45-52 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2016.53
http://www.nature.com/articles/gim201653.pdf
http://www.nature.com/articles/gim201653
https://api.elsevier.com/content/article/PII:S1098360021015306?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021015306?httpAccept=text/plain

المؤلفون: van Walree, Eva S, Dombrowsky, Gregor, Jansen, Iris E, Umićević Mirkov, Maša, Zwart, Rob, Ilgun, Aho, Guo, Dongchuan, Clur, Sally-Ann B, Amin, Ahmed S, Savage, Jeanne E, van der Wal, Allard C, Waisfisz, Quinten, Maugeri, Alessandra, Wilsdon, Anna, Bu'Lock, Frances A, Hurles, Matthew E, Dittrich, Sven, Berger, Felix, Audain Martinez, Enrique, Christoffels, Vincent M, Hitz, Marc-Philip, Milewicz, Dianna M, Posthuma, Daniëlle, Meijers-Heijboer, Hanne, Postma, Alex V, Mathijssen, Inge B

المصدر: Vrije Universiteit Amsterdam Repository

مصطلحات الفهرس: Comment / Letter to the editor

URL: https://research.vu.nl/en/publications/7e2807ba-0a5e-4ff5-b178-9aae3f7eb507
https://research.vu.nl/ws/files/218896448/Germline_variants_in_HEY2_functional_domains_lead_to_congenital_heart_defects_and_thoracic_aortic_aneurysms.pdf
https://research.vu.nl/ws/files/218896448/Germline_variants_in_HEY2_functional_domains_lead_to_congenital_heart_defects_and_thoracic_aortic_aneurysms.pdf

المؤلفون: Mathijssen, Inge B., Knijnenburg, Patricia J. C., Melger, Jonathan

المساهمون: Amsterdam Reproduction & Development (AR&D), Human Genetics, 09 Laboratory specialisms

المصدر: Nederlands tijdschrift voor geneeskunde, 166. Bohn Stafleu van Loghum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::96c324aaece70c2ff17f87b1dbaf8899
https://pure.amc.nl/en/publications/gerimpelde-handpalmen-na-contact-met-water(9b797e9c-70cc-4f5c-b215-c4de5c738527).html

المؤلفون: Maas, Saskia M., Shaw, C. A., Bikker, Hennie, Lüdecke, Hermann-Josef, Tuin, Karin van der, Badura-Stronka, Magdalena, Belligni, Elga, Bonati, Maria Teresa, Carvalho, Daniel R., Cobben, JanMaarten, Man, Stella A. de, Hollander, Nicolette S. Den, Di, Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C., Hoogeboom, A. Jeannette M., Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B., Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B., Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Ende, Jenneke van den, Steen, Antony van der, Essen, Ton van, Haeringen, Arie van, Hagen, Johanna M. van, Verheij, Joke B.G.M., Mannens, Marcel M., Hennekam, Raoul C.

مصطلحات موضوعية: Orvostudományok, Klinikai orvostudományok

وصف الملف: application/pdf

Relation: European Journal Of Medical Genetics. -58 : 5 (2015), p. 279-292. -Eur. J. Med. Genet. - 1769-7212; http://dx.doi.org/10.1016/j.ejmg.2015.03.002; http://webpac.lib.unideb.hu:8082/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM058577; http://linkinghub.elsevier.com/retrieve/pii/S1769721215000592; http://hdl.handle.net/2437/212304

الاتاحة: http://hdl.handle.net/2437/212304
https://doi.org/10.1016/j.ejmg.2015.03.002
http://webpac.lib.unideb.hu:8082/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM058577
http://linkinghub.elsevier.com/retrieve/pii/S1769721215000592

المؤلفون: Tan-Sindhunata, M Brigita, Mathijssen, Inge B, Smit, Margriet, Baas, Frank, de Vries, Johanna I, van der Voorn, J Patrick, Kluijt, Irma, Hagen, Marleen A, Blom, Eveline W, Sistermans, Erik, Meijers-Heijboer, Hanne, Waisfisz, Quinten, Weiss, Marjan M, Groffen, Alexander J

المصدر: European Journal of Human Genetics ; volume 23, issue 9, page 1151-1157 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2014.273
http://www.nature.com/articles/ejhg2014273.pdf
http://www.nature.com/articles/ejhg2014273

المؤلفون: Croonen, Ellen A, Nillesen, Willy M, Stuurman, Kyra E, Oudesluijs, Gretel, van de Laar, Ingrid M B M, Martens, Liesbeth, Ockeloen, Charlotte, Mathijssen, Inge B, Schepens, Marga, Ruiterkamp-Versteeg, Martina, Scheffer, Hans, Faas, Brigitte H W, van der Burgt, Ineke, Yntema, Helger G

المصدر: European Journal of Human Genetics ; volume 21, issue 9, page 936-942 ; ISSN 1018-4813 1476-5438

الاتاحة: http://dx.doi.org/10.1038/ejhg.2012.285
http://www.nature.com/articles/ejhg2012285.pdf
http://www.nature.com/articles/ejhg2012285