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1دورية أكاديمية
المؤلفون: Efthymiou, Stephanie, Scala, Marcello, Nagaraj, Vini, Ochenkowska, Katarzyna, Komdeur, Fenne L, Liang, Robin A, Abdel-Hamid, Mohamed S, Sultan, Tipu, Barøy, Tuva, Van Ghelue, Marijke, Vona, Barbara, Maroofian, Reza, Zafar, Faisal, Alkuraya, Fowzan S, Zaki, Maha S, Severino, Mariasavina, Duru, Kingsley C, Tryon, Robert C, Brauteset, Lin Vigdis, Ansari, Morad, Hamilton, Mark, van Haelst, Mieke M, van Haaften, Gijs, Zara, Federico, Houlden, Henry, Samarut, Éric, Nichols, Colin G, Smeland, Marie F, McClenaghan, Conor
المصدر: Efthymiou , S , Scala , M , Nagaraj , V , Ochenkowska , K , Komdeur , F L , Liang , R A , Abdel-Hamid , M S , Sultan , T , Barøy , T , Van Ghelue , M , Vona , B , Maroofian , R , Zafar , F , Alkuraya , F S , Zaki , M S , Severino , M , Duru , K C , Tryon , R C , Brauteset , L V , Ansari , M , Hamilton , M , van Haelst , M M , ....
الإتاحة: https://doi.org/10.1093/brain/awae010Test
https://research.vumc.nl/en/publications/2e7f5216-1a36-4b48-b07c-ce1ccbaad817Test
http://www.scopus.com/inward/record.url?scp=85192220627&partnerID=8YFLogxKTest -
2دورية أكاديمية
المؤلفون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon
المصدر: Li , D , Wang , Q , Bayat , A , Battig , M R , Zhou , Y , Bosch , D G M , van Haaften , G , Granger , L , Petersen , A K , Pérez-Jurado , L A , Aznar-Laín , G , Aneja , A , Hancarova , M , Bendova , S , Schwarz , M , Pourova , R K , Sedlacek , Z , Keena , B A , March , M E , Hou , C , O’Connor , N , Bhoj , E J , Harr ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1172/JCI171235Test
https://pure.eur.nl/en/publications/88c4a8ca-9fd3-465f-b4a2-f52edc3abaedTest
https://pure.eur.nl/ws/files/126117603/Spliceosome_malfunction_causes_neurodevelopmental_disorders_with_overlapping_features.pdfTest
http://www.scopus.com/inward/record.url?scp=85181539861&partnerID=8YFLogxKTest -
3دورية أكاديمية
المؤلفون: Claus, Laura R., Lekkerkerker, Iris, van der Zwaag, Bert, Nguyen, Tri Q., Knoers, Nine V.A.M., de Borst, Martin H., Rookmaker, Maarten B., Lilien, Marc R., van Eerde, Albertien M., van Kempen, Evy A.M.M., de Wildt, Renée, van den Berg, Gerrit, Keijzer-Veen, Mandy G., van Zuilen, Arjan D., van Reekum, Franka E., Verhaar, Marianne C., Lely, A. Titia, Casellas, Carla Pou, Ammerlaan, Carola, Slaats, Gisela G.G., Garvi, Elena Sendino, Janssen, Manoe J., van Etten, Ronald W., van der Net, Jeroen B., van Buren, Marjolijn, de Haan, Amber, Rump, Patrick, Besouw, Martine T.P., Stokman, Marijn F., Westland, Rik, van Wijk, Joanne A.E., Marsman, Roos F., van Haelst, Mieke M., van Rooij, Roos W.G., Spijker, H. Siebe, Bouman, Heleen, Hoorn, Ewout J., Mulder, Jaap, Goverde, Anne, van Haaften, Gijs, Giltay, Jacques C., van Tintelen, J. Peter
المساهمون: Nierstichting
المصدر: Rare ; page 100030 ; ISSN 2950-0087
الإتاحة: https://doi.org/10.1016/j.rare.2024.100030Test
https://api.elsevier.com/content/article/PII:S2950008724000139?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2950008724000139?httpAccept=text/plainTest -
4تقرير
المؤلفون: Besteman, Sjanna B, Phung, Emily, Raeven, Henriette H M, Amatngalim, Gimano D, Rumpret, Matevž, Crabtree, Juliet, Schepp, Rutger M, Rodenburg, Lisa W, Siemonsma, Susanna G, Verleur, Nile, van Slooten, Rianne, Duran, Karen, van Haaften, Gijs W, Beekman, Jeffrey M, Chang, Lauren A, Meyaard, Linde, van der Bruggen, Tjomme, Berbers, Guy A M, Derksen, Nicole, Nierkens, Stefan, Morabito, Kaitlyn M, Ruckwardt, Tracy J, Kurt-Jones, Evelyn A, Golenbock, Douglas, Graham, Barney S, Bont, Louis J
المساهمون: Medicine
المصدر: The Journal of infectious diseases ; 226 ; 2 ; 258 ; 269 ; United States
مصطلحات موضوعية: CD14, Toll-like receptor, epithelium, monocyte, respiratory syncytial virus
العلاقة: Journal of Infectious Diseases; https://doi.org/10.1093/infdis/jiac114Test; Besteman SB, Phung E, Raeven HHM, Amatngalim GD, Rumpret M, Crabtree J, Schepp RM, Rodenburg LW, Siemonsma SG, Verleur N, van Slooten R, Duran K, van Haaften GW, Beekman JM, Chang LA, Meyaard L, van der Bruggen T, Berbers GAM, Derksen N, Nierkens S, Morabito KM, Ruckwardt TJ, Kurt-Jones EA, Golenbock D, Graham BS, Bont LJ. Recurrent Respiratory Syncytial Virus Infection in a CD14-Deficient Patient. J Infect Dis. 2022 Aug 24;226(2):258-269. doi:10.1093/infdis/jiac114. PMID: 35429403; PMCID: PMC9400420.; http://hdl.handle.net/20.500.14038/52944Test; The Journal of infectious diseases
الإتاحة: https://doi.org/10.1093/infdis/jiac114Test
https://doi.org/20.500.14038/52944Test
https://hdl.handle.net/20.500.14038/52944Test -
5دورية أكاديمية
المؤلفون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Hakonarson, Hakon
المساهمون: Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Hakonarson, Hakon
العلاقة: EXC 2067: Multiscale Bioimaging; https://resolver.sub.uni-goettingen.de/purl?gro-2/139206Test; https://mbexc.uni-goettingen.de/literature/publications/915Test
الإتاحة: https://doi.org/10.1172/JCI171235Test
https://resolver.sub.uni-goettingen.de/purl?gro-2/139206Test
https://mbexc.uni-goettingen.de/literature/publications/915Test -
6دورية أكاديمية
المؤلفون: Van Outersterp, Inge, Van Der Velden, Vincent H.J., Hoogeveen, Patricia G., Vaitkevičienė, Goda Elizabeta, Sonneveld, Edwin, Van Haaften, Gijs, Kuiper, Roland P., Zur Stadt, Udo, Escherich, Gabriele, Boer, Judith M., Den Boer, Monique L.
المصدر: HemaSphere., Philadelphia : Wolters Kluwer Health, 2023, vol. 7, iss. 10, p. [1-5]. ; eISSN 2572-9241
وصف الملف: application/pdf
العلاقة: https://epublications.vu.lt/object/elaba:180598718/180598718.pdfTest; https://repository.vu.lt/VU:ELABAPDB180598718&prefLang=en_USTest
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7دورية أكاديمية
المؤلفون: Nijboer, Tanja C W, Hessel, Ellen V S, van Haaften, Gijs W, van Zandvoort, Martine J, van der Spek, Peter J, Troelstra, Christine, de Kovel, Carolien G F, Koeleman, Bobby P C, van der Zwaag, Bert, Brilstra, Eva H, Burbach, J Peter H
المساهمون: Revalidatiegeneeskunde Onderzoek, Brain, Genetica Sectie Research, Cancer, Child Health, Neuropsychologie, Genetica Groep Koeleman, Circulatory Health, Genetica Sectie Genoomdiagnostiek, Genetica Klinische Genetica, TN groep Hol
مصطلحات موضوعية: Agnosia/genetics, Brachytherapy, Brain, Color, Cytoskeletal Proteins, Excipients, Humans, RNA-Binding Proteins, Vesicular Transport Proteins, General, Journal Article, Research Support, Non-U.S. Gov't
وصف الملف: application/pdf
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8دورية أكاديمية
المؤلفون: Créton, Marijn, Wagener, Frank, Massink, Maarten, Fennis, Willem, Bloemen, Marjon, Schols, Jan, Aarts, Miranda, van der Molen, Aebele Mink, van Haaften, Gijs, van den Boogaard, Marie José
المساهمون: Genetica, Genetica Sectie Genoomdiagnostiek, MKA/BT Onderzoek, Other research (not in main researchprogram), Zorgeenheid Plastische Chirurgie Medisch, Genetica Sectie Research, Cancer, Child Health, Genetica Klinische Genetica
مصطلحات موضوعية: cleft palate, CRISPLD1, CRISPLD2, IRF6, USP10, ZFHX4, Genetics(clinical), Genetics, Case Reports
وصف الملف: application/pdf
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9دورية أكاديمية
المؤلفون: Claus, Laura R., Chen, Chuan, Stallworth, Jennifer, Turner, Joshua L., Slaats, Gisela, Hawks, Alexandra L., Mabillard, Holly, Senum, Sarah R., Srikanth, Sujata, Flanagan-Steet, Heather, Louie, Raymond J., Silver, Josh, Lerner-Ellis, Jordan, Morel, Chantal, Mighton, Chloe, Sleutels, Frank, van Slegtenhorst, Marjon, van Ham, Tjakko, Brooks, Alice S., Dorresteijn, Eiske M., Barakat, Tahsin Stefan, Dahan, Karin, Demoulin, Nathalie, Goffin, Eric, Olinger, Eric, Larsen, Martin, Hertz, Jens Michael, Lilien, Marc R., Obeidová, Lena, Seeman, Tomas, Stone, Hillarey K., Kerecuk, Larissa, Gurgu, Mihai, Yousef Yengej, Fjodor A., Ammerlaan, Carola ME., Rookmaaker, Maarten B., Hanna, Christian, Rogers, R. Curtis, Duran, Karen, Peters, Edith, Sayer, John A., van Haaften, Gijs, Harris, Peter C., Ling, Kun, Mason, Jennifer M., van Eerde, Albertien M., Steet, Richard
المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (MGD) Service de néphrologie
المصدر: Kidney International, Vol. 104, no. 5, p. 995-1007 (2023)
مصطلحات موضوعية: Nephrology
العلاقة: boreal:277435; http://hdl.handle.net/2078.1/277435Test; urn:ISSN:0085-2538
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10دورية أكاديمية
المؤلفون: Van Outersterp, Inge, Van Der Velden, Vincent H.J., Hoogeveen, Patricia G., Vaitkevičienė, Goda E., Sonneveld, Edwin, Van Haaften, Gijs, Kuiper, Roland P., Zur Stadt, Udo, Escherich, Gabriele, Boer, Judith M., Den Boer, Monique L.
المصدر: Van Outersterp , I , Van Der Velden , V H J , Hoogeveen , P G , Vaitkevičienė , G E , Sonneveld , E , Van Haaften , G , Kuiper , R P , Zur Stadt , U , Escherich , G , Boer , J M & Den Boer , M L 2023 , ' ABL-class Genomic Breakpoint Q-PCR : A Patient-specific Approach for MRD Monitoring in Acute Lymphoblastic Leukemia ' , HemaSphere , vol. 7 , no. 10 , pp. E967 . https://doi.org/10.1097/HS9.0000000000000967Test
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1097/HS9.0000000000000967Test
https://pure.eur.nl/en/publications/e41788ab-258c-454c-9ca7-d639733d621eTest
https://pure.eur.nl/ws/files/103517121/abl_class_genomic_breakpoint_q_pcr_a.5.pdfTest
http://www.scopus.com/inward/record.url?scp=85173229580&partnerID=8YFLogxKTest
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