المؤلفون: Vorsteveld, Emil E, Van der Made, Caspar I, Smeekens, Sanne P, Schuurs-Hoeijmakers, Janneke H, Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M, Yntema, Helger G, Mantere, Tuomo, AlZahrani, Mofareh S, van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S V, van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B, Jongmans, Marjolijn C J, Keski-Filppula, Riikka, Krapels, Ingrid, Te Loo, Maroeska, Mulders-Manders, Catharina M, Ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C, Terhal, Paulien A, Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K, van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G, Simons, Annet, Hoischen, Alexander, Arts, Rob J W, Bijker, Else M, Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I, van Laarhoven, Arjan

المصدر: Vorsteveld , E E , Van der Made , C I , Smeekens , S P , Schuurs-Hoeijmakers , J H , Astuti , G , Diepstra , H , Gilissen , C , Hoenselaar , E , Janssen , A , van Roozendaal , K , Engelen , J S , Steyaert , W , Weiss , M M , Yntema , H G , Mantere , T , AlZahrani , M S , van Aerde , K , Derfalvi , B , Faqeih , E A , Henriet , S S V , van Hoof , E ....

مصطلحات موضوعية: Autoimmune disorders, Autoinflammatory disorders, Clinical exome sequencing, Exome reanalysis, Genomics, Inborn errors of immunity, Longitudinal follow-up, NGS-based sequencing, Primary immunodeficiencies

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/97b73946-b820-4927-b5a1-147451f209b6
https://doi.org/10.1016/j.clim.2024.110375

المؤلفون: Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., Schols, Saskia E.M.

المساهمون: Poli Van Creveldkliniek Medisch, Child Health, Circulatory Health, Infection & Immunity

مصطلحات موضوعية: blood coagulation disorders, exome sequencing, fibrinolysis, hemostasis, inherited, Hematology

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/455441

الاتاحة: https://dspace.library.uu.nl/handle/1874/455441

المؤلفون: Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., Schols, Saskia E.M.

المصدر: Willems , S P E , Simons , A , Saes , J L , Weiss , M , Rijpma , S , Schoormans , S , Meijer , K , Cnossen , M H , Schutgens , R E G , van Es , N , Nieuwenhuizen , L , den Exter , P L , Kruis , I C , Blijlevens , N M A , van Heerde , W L & Schols , S E M 2024 , ' Targeted exome analysis in patients with rare bleeding disorders : data from the Rare Bleeding Disorders in ....

مصطلحات موضوعية: blood coagulation disorders, exome sequencing, fibrinolysis, hemostasis, inherited

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/b4a2b251-18ed-40f0-87e7-fa4e081f5c9a
https://research.rug.nl/en/publications/b4a2b251-18ed-40f0-87e7-fa4e081f5c9a
https://doi.org/10.1016/j.rpth.2024.102477
https://pure.rug.nl/ws/files/1125722137/PIIS2475037924001663.pdf
http://www.scopus.com/inward/record.url?scp=85198247974&partnerID=8YFLogxK

المؤلفون: Becking, Ellis C., Scheffer, Peter G., Henrichs, Jens, Bax, Caroline J., Crombag, Neeltje M. T. H., Weiss, Marjan M., Macville, Merryn V. E., van Opstal, Diane, Boon, Elles M. J., Sistermans, Erik A., Henneman, Lidewij, Schuit, Ewoud, Bekker, Mireille N.

المصدر: Becking , E C , Scheffer , P G , Henrichs , J , Bax , C J , Crombag , N M T H , Weiss , M M , Macville , M V E , van Opstal , D , Boon , E M J , Sistermans , E A , Henneman , L , Schuit , E & Bekker , M N 2024 , ' Fetal fraction of cell-free DNA in noninvasive prenatal testing and adverse pregnancy outcomes : a nationwide retrospective cohort study of 56,110 pregnant women ' , American Journal of Obstetrics and Gynecology ....

الاتاحة: https://research.vumc.nl/en/publications/e8d37366-699c-45ca-ab78-2196ba2a4a62
https://doi.org/10.1016/j.ajog.2023.12.008
http://www.scopus.com/inward/record.url?scp=85181801269&partnerID=8YFLogxK

المؤلفون: Becking, Ellis C, Scheffer, Peter G, Henrichs, Jens, Bax, Caroline J, Crombag, Neeltje M T H, Weiss, Marjan M, Macville, Merryn V E, Van Opstal, Diane, Boon, Elles M J, Sistermans, Erik A, Henneman, Lidewij, Schuit, Ewoud, Bekker, Mireille N

المساهمون: MS Verloskunde, Klinisch Verloskundigen, Epi Methoden Team 2, Cancer, JC onderzoeksprogramma Methodologie, Child Health, Circulatory Health

مصطلحات موضوعية: adverse pregnancy outcomes, cell-free DNA, cell-free DNA screening, cell-free fetal DNA, fetal fraction, gestational diabetes, hypertensive disorders of pregnancy, noninvasive prenatal testing, pregnancy complications, small for gestational age neonates, spontaneous preterm birth, Obstetrics and Gynaecology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454835

الاتاحة: https://dspace.library.uu.nl/handle/1874/454835

المؤلفون: Schobers, Gaby, Derks, Ronny, den Ouden, Amber, Swinkels, Hilde, van Reeuwijk, Jeroen, Bosgoed, Ermanno, Lugtenberg, Dorien, Sun, Su Ming, Corominas Galbany, Jordi, Weiss, Marjan, Blok, Marinus J, Olde Keizer, Richelle A C M, Hofste, Tom, Hellebrekers, Debby, de Leeuw, Nicole, Stegmann, Alexander, Kamsteeg, Erik-Jan, Paulussen, Aimee D C, Ligtenberg, Marjolijn J L, Bradley, Xiangqun Zheng, Peden, John, Gutierrez, Alejandra, Pullen, Adam, Payne, Tom, Gilissen, Christian, van den Wijngaard, Arthur, Brunner, Han G, Nelen, Marcel, Yntema, Helger G, Vissers, Lisenka E L M

المصدر: Schobers , G , Derks , R , den Ouden , A , Swinkels , H , van Reeuwijk , J , Bosgoed , E , Lugtenberg , D , Sun , S M , Corominas Galbany , J , Weiss , M , Blok , M J , Olde Keizer , R A C M , Hofste , T , Hellebrekers , D , de Leeuw , N , Stegmann , A , Kamsteeg , E-J , Paulussen , A D C , Ligtenberg , M J L , Bradley , X Z , Peden , J , ....

مصطلحات موضوعية: Genetic diagnostic laboratories, Genome sequencing, Germline variant detection, Impact modeling, Rare disease, Reducing workflow complexity, Humans, Rare Diseases/diagnosis genetics, Whole Genome Sequencing, Base Sequence, Chromosome Mapping, Exome Sequencing, High-Throughput Nucleotide Sequencing

Relation: https://cris.maastrichtuniversity.nl/en/publications/f219a7b3-13f3-42e8-bd8f-8a882201cc4e

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f219a7b3-13f3-42e8-bd8f-8a882201cc4e
https://doi.org/10.1186/s13073-024-01301-y

المؤلفون: Tolmeijer, Sofie H., van Wilpe, Sandra, Geerlings, Maartje J., von Rhein, Daniel, Smilde, Tineke J., Kloots, Iris S.H., Westdorp, Harm, Coskuntürk, Mustafa, Oving, Irma M., van Ipenburg, Jolique A., van der Heijden, Antoine G., Hofste, Tom, Weiss, Marjan M., Schalken, Jack A., Gerritsen, Winald R., Ligtenberg, Marjolijn J.L., Mehra, Niven

المساهمون: Paul Foundation

المصدر: European Urology Oncology ; volume 7, issue 2, page 282-291 ; ISSN 2588-9311

الاتاحة: http://dx.doi.org/10.1016/j.euo.2023.08.009
https://api.elsevier.com/content/article/PII:S2588931123001670?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2588931123001670?httpAccept=text/plain

المؤلفون: Bryant, Laura, Li, Dong, Cox, Samuel G, Marchione, Dylan, Joiner, Evan F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J, Wadley, Alexandrea, Mancini, Grazia MS, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P, Powis, Zoe, Cho, Megan T, Willing, Marcia C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B, Retterer, Kyle, Schuette, Jane L, Innis, Jeffrey W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M, Monaghan, Kristin G, DDD Study, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A, Lyons, Michael J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H, Õunap, Katrin, Ilves, Pilvi, Innes, A Micheil, Kernohan, Kristin D, Care4Rare Canada Consortium, Costain, Gregory, Meyn, M Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, CAUSES Study, Martin, Martin G, Martinez-Agosto, Julian A, Undiagnosed Diseases Network, Nelson, Stan F, Palmer, Christina GS, Papp, Jeanette C, Parker, Neil H, Sinsheimer, Janet S, Vilain, Eric, Wan, Jijun, Yoon, Amanda J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M, Gotway, Garrett, Stuurman, KE

المصدر: Science advances. 6(49)

مصطلحات موضوعية: DDD Study, Care4Rare Canada Consortium, CAUSES Study, Undiagnosed Diseases Network, Cancer, Rare Diseases, Human Genome, Pediatric Research Initiative, Genetics, Biotechnology, 2.1 Biological and endogenous factors

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6fw0s88w

المؤلفون: Johnson, Brett V, Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A, VanHasselt, Peter M, Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pena, Loren, Shashi, Vandana, Undiagnosed Diseases Network, Schoch, Kelly, Sullivan, Jennifer A, Pinto E Vairo, Filippo, Pichurin, Pavel N, Ewing, Sarah A, Barnett, Sarah S, Klee, Eric W, Perry, M Scott, Koenig, Mary Kay, Keegan, Catherine E, Schuette, Jane L, Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D, Rosenfeld, Jill A, Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E, Steeves, Marcie A, Hollander, Nicolette den, Hoffer, Mariëtte JV, Reijnders, Margot RF, Demirdas, Serwet, Koboldt, Daniel C, Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E, Shieh, Christine, Sanchez-Lara, Pedro A, Graham, John M, Tezcan, Kamer, Schaefer, GB, Danylchuk, Noelle R, Asamoah, Alexander, Jackson, Kelly E, Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A, Kleefstra, Tjitske

المصدر: Biological psychiatry. 87(2)

مصطلحات موضوعية: Undiagnosed Diseases Network, Animals, Humans, Mice, Ubiquitin Thiolesterase, Transforming Growth Factor beta, Developmental Disabilities, Signal Transduction, Phenotype, Female, Male, Haploinsufficiency, Intellectual Disability, Brain malformation, Deubiquitylating enzyme, Hippocampus, Neurodevelopmental disorder, TGFβ, USP9X, Congenital Structural Anomalies, Genetics, Neurosciences, Pediatric, Mental Health, Behavioral and Social Science, Brain Disorders, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, TGF beta, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7rc8p7tf

المؤلفون: Guo, Hui, Bettella, Elisa, Marcogliese, Paul, Zhao, Rongjuan, Andrews, Jonathan, Nowakowski, Tomasz, Gillentine, Madelyn, Hoekzema, Kendra, Wang, Tianyun, Wu, Huidan, Jangam, Sharayu, Liu, Cenying, Ni, Hailun, Willemsen, Marjolein, van Bon, Bregje, Rinne, Tuula, Stevens, Servi, Kleefstra, Tjitske, Brunner, Han, Yntema, Helger, Long, Min, Zhao, Wenjing, Hu, Zhengmao, Colson, Cindy, Richard, Nicolas, Schwartz, Charles, Romano, Corrado, Castiglia, Lucia, Bottitta, Maria, Dhar, Shweta, Erwin, Deanna, Emrick, Lisa, Keren, Boris, Afenjar, Alexandra, Zhu, Baosheng, Bai, Bing, Stankiewicz, Pawel, Mercimek-Andrews, Saadet, Juusola, Jane, Wilfert, Amy, Abou Jamra, Rami, Büttner, Benjamin, Mefford, Heather, Muir, Alison, Scheffer, Ingrid, Regan, Brigid, Malone, Stephen, Gecz, Jozef, Cobben, Jan, Weiss, Marjan, Waisfisz, Quinten, Bijlsma, Emilia, Hoffer, Mariëtte, Ruivenkamp, Claudia, Sartori, Stefano, Xia, Fan, Rosenfeld, Jill, Bernier, Raphael, Wangler, Michael, Yamamoto, Shinya, Xia, Kun, Stegmann, Alexander, Bellen, Hugo, Murgia, Alessandra, Eichler, Evan, Herman, Kristin

المصدر: Nature Communications. 10(1)

مصطلحات موضوعية: Adolescent, Adult, Animals, Autistic Disorder, Behavior, Animal, Brain, Child, Child, Preschool, Craniofacial Abnormalities, Developmental Disabilities, Drosophila Proteins, Drosophila melanogaster, Epilepsy, Female, Humans, Intellectual Disability, Language Development Disorders, Male, Membrane Proteins, Mental Disorders, Muscle Proteins, Mutation, Nerve Tissue Proteins, Neurodevelopmental Disorders, Neuroglia, Neurons, Proteins, Exome Sequencing, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/38k6g99s
https://escholarship.org/content/qt38k6g99s/qt38k6g99s.pdf

المؤلفون: van der Meij, K.R.M., Bekker, M.N., Martin, L., Gitsels-van der Wal, J.T., van Vliet-Lachotzki, Elsbeth H., Macville, Merryn, Weiss, Marjan, Galjaard, Robert-Jan, Sistermans, E.A., Henneman, L.

المصدر: van der Meij , K R M , Bekker , M N , Martin , L , Gitsels-van der Wal , J T , van Vliet-Lachotzki , E H , Macville , M , Weiss , M , Galjaard , R-J , Sistermans , E A & Henneman , L 2023 , ' Abstracts from the 55th European Society of Human Genetics (ESHG) Conference : Oral Presentations ' , European Society of Human Genetics (ESHG) Conference , 11/06/2022 - 14/06/2022 pp. 3-90 . https://doi.org/10.1038/s41431-023-01337-5

Relation: https://research.vumc.nl/en/publications/bd713bc9-ed0d-4721-9ee0-add10f287447

الاتاحة: https://research.vumc.nl/en/publications/bd713bc9-ed0d-4721-9ee0-add10f287447
https://doi.org/10.1038/s41431-023-01337-5
http://www.scopus.com/inward/record.url?scp=85158916371&partnerID=8YFLogxK

المؤلفون: Ghosh, Shereen G, Becker, Kerstin, Huang, He, Dixon-Salazar, Tracy, Chai, Guoliang, Salpietro, Vincenzo, Al-Gazali, Lihadh, Waisfisz, Quinten, Wang, Haicui, Vaux, Keith K, Stanley, Valentina, Manole, Andreea, Akpulat, Ugur, Weiss, Marjan M, Efthymiou, Stephanie, Hanna, Michael G, Minetti, Carlo, Striano, Pasquale, Pisciotta, Livia, De Grandis, Elisa, Altmüller, Janine, Weixler, Lisa, Nürnberg, Peter, Thiele, Holger, Yis, Uluc, Okur, Tuncay Derya, Polat, Ayse Ipek, Amiri, Nafise, Doosti, Mohammad, Karimani, Ehsan Ghayoor, Toosi, Mehran B, Haddad, Gabriel, Karakaya, Mert, Wirth, Brunhilde, van Hagen, Johanna M, Wolf, Nicole I, Maroofian, Reza, Houlden, Henry, Cirak, Sebahattin, Gleeson, Joseph G

المصدر: American Journal of Human Genetics. 103(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Genetics, Biological Sciences, Epilepsy, Pediatric, Brain Disorders, Neurosciences, Rare Diseases, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, ADP-ribosylation, ADPRHL2, ARH3, SUDEP, ataxia, epilepsy, neurodegeneration, neuropathy, oxidative stress, poly-ADP ribose, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0p70k5s6

المؤلفون: Hofste, Lisa S.M., Geerlings, Maartje J., von Rhein, Daniel, Rütten, Heidi, Westenberg, A. Helen, Weiss, Marjan M., Gilissen, Christian, Hofste, Tom, van der Post, Rachel S., Klarenbeek, Bastiaan R., de Wilt, Johannes H.W., Ligtenberg, Marjolijn J.L., Garms, Linda, Liem, Maite, Rozema, Tom, Wasowicz, Dareczka, Burger, Pim, Polat, Fatih, Reijnders, Koen, de Roos, Marnix, Sietses, Colin

المصدر: European Journal of Surgical Oncology ; volume 49, issue 7, page 1283-1290 ; ISSN 0748-7983

الاتاحة: http://dx.doi.org/10.1016/j.ejso.2023.01.026
https://api.elsevier.com/content/article/PII:S0748798323000938?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0748798323000938?httpAccept=text/plain

المؤلفون: Ge, Xiaoyan, Gong, Henry, Dumas, Kevin, Litwin, Jessica, Phillips, Joanna J, Waisfisz, Quinten, Weiss, Marjan M, Hendriks, Yvonne, Stuurman, Kyra E, Nelson, Stanley F, Grody, Wayne W, Lee, Hane, Kwok, Pui-Yan, Shieh, Joseph Tc

المصدر: NPJ genomic medicine. 1(1)

مصطلحات موضوعية: ARF1, Exome sequencing, GDP/GTP, MDR, RAS superfamily, brain malformation, missense-depletion, nucleotide-binding, variant prioritization

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8wb9b0k2

المؤلفون: Poli Van Creveldkliniek Medisch, Child Health, Circulatory Health, Infection & Immunity, Willems, Sterre P.E., Simons, Annet, Saes, Joline L., Weiss, Marjan, Rijpma, Sanna, Schoormans, Selene, Meijer, Karina, Cnossen, Marjon H., Schutgens, Roger E.G., van Es, Nick, Nieuwenhuizen, Laurens, den Exter, Paul L., Kruis, Ilmar C., Blijlevens, Nicole M.A., van Heerde, Waander L., Schols, Saskia E.M.

URL: https://doi.org/10.1016/j.rpth.2024.102477
http://hdl.handle.net/1874/455441
https://dspace.library.uu.nl/handle/1874/455441
http://www.scopus.com/inward/record.url?scp=85198247974&partnerID=8YFLogxK
2475-0379
Research and practice in thrombosis and haemostasis
8
4
102477

المؤلفون: MS Verloskunde, Klinisch Verloskundigen, Epi Methoden Team 2, Cancer, JC onderzoeksprogramma Methodologie, Child Health, Circulatory Health, Becking, Ellis C, Scheffer, Peter G, Henrichs, Jens, Bax, Caroline J, Crombag, Neeltje M T H, Weiss, Marjan M, Macville, Merryn V E, Van Opstal, Diane, Boon, Elles M J, Sistermans, Erik A, Henneman, Lidewij, Schuit, Ewoud, Bekker, Mireille N

URL: https://doi.org/10.1016/j.ajog.2023.12.008
http://hdl.handle.net/1874/454835
https://dspace.library.uu.nl/handle/1874/454835
http://www.scopus.com/inward/record.url?scp=85181801269&partnerID=8YFLogxK
0002-9378
American Journal of Obstetrics and Gynecology
231
2
244.e1
244.e18

المؤلفون: van der Velde, K. Joeri, Singh, Gurnoor, Kaliyaperumal, Rajaram, Liao, XiaoFeng, de Ridder, Sander, Rebers, Susanne, Kerstens, Hindrik H. D., de Andrade, Fernanda, van Reeuwijk, Jeroen, de Gruyter, Fini E., Hiltemann, Saskia, Ligtvoet, Maarten, Weiss, Marjan M., van Deutekom, Hanneke W. M., Jansen, Anne M. L., Stubbs, Andrew P., Vissers, Lisenka E. L. M., Laros, Jeroen F. J., van Enckevort, Esther, Stemkens, Daphne, ‘t Hoen, Peter A. C., Beliën, Jeroen A. M., van Gijn, Mariëlle E., Swertz, Morris A.

المصدر: van der Velde , K J , Singh , G , Kaliyaperumal , R , Liao , X , de Ridder , S , Rebers , S , Kerstens , H H D , de Andrade , F , van Reeuwijk , J , de Gruyter , F E , Hiltemann , S , Ligtvoet , M , Weiss , M M , van Deutekom , H W M , Jansen , A M L , Stubbs , A P , Vissers , L E L M , Laros , J F J , van Enckevort , E , ....

Relation: https://research.vumc.nl/en/publications/8a976f34-2444-4d6c-a85b-71ed54186b03

الاتاحة: https://research.vumc.nl/en/publications/8a976f34-2444-4d6c-a85b-71ed54186b03
https://doi.org/10.1038/s41597-022-01265-x
http://www.scopus.com/inward/record.url?scp=85128148062&partnerID=8YFLogxK

المؤلفون: van der Velde, K Joeri, Singh, Gurnoor, Kaliyaperumal, Rajaram, Liao, XiaoFeng, de Ridder, Sander, Rebers, Susanne, Kerstens, Hindrik H D, de Andrade, Fernanda, van Reeuwijk, Jeroen, De Gruyter, Fini E, Hiltemann, Saskia, Ligtvoet, Maarten, Weiss, Marjan M, van Deutekom, Hanneke W M, Jansen, Anne M L, Stubbs, Andrew P, Vissers, Lisenka E L M, Laros, Jeroen F J, van Enckevort, Esther, Stemkens, Daphne, 't Hoen, Peter A C, Beliën, Jeroen A M, van Gijn, Mariëlle E, Swertz, Morris A

المساهمون: Genetica Medische Informatica, Pathologie Moleculair, Infection & Immunity

مصطلحات موضوعية: Delivery of Health Care, Genomics, High-Throughput Nucleotide Sequencing, Humans, Metadata, Software, Information Systems, Education, Library and Information Sciences, Statistics and Probability, Computer Science Applications, Statistics, Probability and Uncertainty, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/446203

الاتاحة: https://dspace.library.uu.nl/handle/1874/446203

المؤلفون: Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W., Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C., Dincer, Yasemin, Eck, Sebastian H., van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G., Weiss, Marjan M.

المصدر: Souche , E , Beltran , S , Brosens , E , Belmont , J W , Fossum , M , Riess , O , Gilissen , C , Ardeshirdavani , A , Houge , G , van Gijn , M , Clayton-Smith , J , Synofzik , M , de Leeuw , N , Deans , Z C , Dincer , Y , Eck , S H , van der Crabben , S , Balasubramanian , M , Graessner , H , Sturm , M , Firth , H , Ferlini , A , Nabbout , R , ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/4bb43a06-cae3-41be-ad4d-145145d78050
https://doi.org/10.1038/s41431-022-01113-x
https://pure.eur.nl/ws/files/66241613/Recommendations_for_whole_genome_sequencing_in_diagnostics_for_rare_diseases.pdf
http://www.scopus.com/inward/record.url?scp=85130191786&partnerID=8YFLogxK

المؤلفون: Tjon, Jill K., Lakeman, Phillis, van Leeuwen, Elisabeth, Waisfisz, Quinten, Weiss, Marjan M., Tan-Sindhunata, Gita M.B., Nikkels, Peter G.J., van der Voorn, Patrick J.P., Salomons, Gajja S., Burchell, George L., Linskens, Ingeborg H., van der Knoop, Bloeme J., de Vries, Johanna I.P.

المصدر: Tjon , J K , Lakeman , P , van Leeuwen , E , Waisfisz , Q , Weiss , M M , Tan-Sindhunata , G M B , Nikkels , P G J , van der Voorn , P J P , Salomons , G S , Burchell , G L , Linskens , I H , van der Knoop , B J & de Vries , J I P 2021 , ' Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review ' , ....

الاتاحة: https://research.vumc.nl/en/publications/e4451269-2f8d-4df0-8c82-539b36bc01b2
https://doi.org/10.1002/mgg3.1827
http://www.scopus.com/inward/record.url?scp=85116729226&partnerID=8YFLogxK