Resultados da pesquisa - Hollink, Iris H. I. M.

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies Por Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., van der Veken, Lars T., Ernst, Robert F., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Hout, Annemieke H., Abbott, Kristin M., Hoischen, Alexander, Pieterse, Marc, Kuijpers, Taco W., van Montfrans, Joris M., van Gijn, Mariëlle E.

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Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis Por Zhou, Zijun, Hollink, Iris H. I. M., Bouman, Arjan, Lourens, Mirthe S., Brooimans, Rik A., van Ham, Tjakko J., Fraaij, Pieter L. A., van Rossum, Annemarie M. C., Zijtregtop, Eline A. M., Dik, Willem A., Dalm, Virgil A. S. H., van Hagen, P. Martin, Ijspeert, Hanna, Vermont, Clementien L.

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Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis Por Joosse, Maria E., Charbit-Henrion, Fabienne, Boisgard, Remy, Raatgeep, Rolien (H.) C., Lindenbergh-Kortleve, Dicky J., Costes, Léa M. M., Nugteren, Sandrine, Guegan, Nicolas, Parlato, Marianna, Veenbergen, Sharon, Malan, Valérie, Nowak, Jan K., Hollink, Iris H. I. M., Mearin, M. Luisa, Escher, Johanna C., Cerf-Bensussan, Nadine, Samsom, Janneke N.

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Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation Por Tyler, Paul M., Bucklin, Molly L., Zhao, Mengting, Maher, Timothy J., Rice, Andrew J., Ji, Weizhen, Warner, Neil, Pan, Jie, Morotti, Raffaella, McCarthy, Paul, Griffiths, Anne, van Rossum, Annemarie M.C., Hollink, Iris H.I.M., Dalm, Virgil A.S.H., Catanzaro, Jason, Lakhani, Saquib A., Muise, Aleixo M., Lucas, Carrie L.

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Characterization of CEBPA mutations and promoter hypermethylation in pediatric acute myeloid leukemia Por Hollink, Iris H.I.M., van den Heuvel-Eibrink, Marry M., Arentsen-Peters, Susan T.C.J.M., Zimmermann, Martin, Peeters, Justine K., Valk, Peter J.M., Balgobind, Brian V., Sonneveld, Edwin, Kaspers, Gertjan J.L., de Bont, Eveline S.J.M., Trka, Jan, Baruchel, Andre, Creutzig, Ursula, Pieters, Rob, Reinhardt, Dirk, Zwaan, C. Michel

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Integrative analysis of type-I and type-II aberrations underscores the genetic heterogeneity of pediatric acute myeloid leukemia Por Balgobind, Brian V., Hollink, Iris H.I.M., Arentsen-Peters, Susan T.C.J.M., Zimmermann, Martin, Harbott, Jochen, Beverloo, H. Berna, von Bergh, Anne R.M., Cloos, Jacqueline, Kaspers, Gertjan J.L., de Haas, Valerie, Zemanova, Zuzana, Stary, Jan, Cayuela, Jean-Michel, Baruchel, Andre, Creutzig, Ursula, Reinhardt, Dirk, Pieters, Rob, Zwaan, C. Michel, van den Heuvel-Eibrink, Marry M.

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Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands Por Blom, Maartje, Bredius, Robbert G. M., Jansen, Marleen E., Weijman, Gert, Kemper, Evelien A., Vermont, Clementien L., Hollink, Iris H. I. M., Dik, Willem A., van Montfrans, Joris M., van Gijn, Mariëlle E., Henriet, Stefanie S., van Aerde, Koen J., Koole, Wouter, Lankester, Arjan C., Dekkers, Eugènie H. B. M., Schielen, Peter C. J. I., de Vries, Martine C., Henneman, Lidewij, van der Burg, Mirjam

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Evaluation of gene expression signatures predictive of cytogenetic and molecular subtypes of pediatric acute myeloid leukemia Por Balgobind, Brian V., Van den Heuvel-Eibrink, Marry M., De Menezes, Renee X., Reinhardt, Dirk, Hollink, Iris H.I.M., Arentsen-Peters, Susan T.J.C.M., van Wering, Elisabeth R., Kaspers, Gertjan J.L., Cloos, Jacqueline, de Bont, Evelien S.J.M., Cayuela, Jean-Michel, Baruchel, Andre, Meyer, Claus, Marschalek, Rolf, Trka, Jan, Stary, Jan, Beverloo, H. Berna, Pieters, Rob, Zwaan, C. Michel, den Boer, Monique L.

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Human TBK1 Deficiency Leads to Autoinflammation Driven by TNF-Induced Cell Death Por Taft, Justin, Markson, Michael, Legarda, Diana, Patel, Roosheel, Chan, Mark, Malle, Louise, Richardson, Ashley, Gruber, Conor, Martín-Fernández, Marta, Mancini, Grazia M.S., van Laar, Jan A.M., van Pelt, Philomine, Buta, Sofija, Wokke, Beatrijs H.A., Sabli, Ira K.D., Sancho-Shimizu, Vanessa, Chavan, Pallavi Pimpale, Schnappauf, Oskar, Khubchandani, Raju, Cüceoğlu, Müşerref Kasap, Özen, Seza, Kastner, Daniel, Ting, Adrian T., Aksentijevich, Ivona, Hollink, Iris H. I. M., Bogunovic, Dusan

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Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Ge... Por Elsink, Kim, Huibers, Manon M. H., Hollink, Iris H. I. M., Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Veken, Lars T., Leavis, Helen L., Henriet, Stefanie S. V., van Deuren, Marcel, van de Veerdonk, Frank L., Potjewijd, Judith, Berghuis, Dagmar, Dalm, Virgil A. S. H., Vermont, Clementien L., van de Ven, Annick A. J. M., Lambeck, Annechien J. A., Abbott, Kristin M., van Hagen, P. Martin, de Bree, Godelieve J., Kuijpers, Taco W., Frederix, Geert W. J., van Gijn, Mariëlle E., van Montfrans, Joris M.

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ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder Por Williams, Lloyd B., Javed, Asif, Sabri, Amin, Morgan, Denise J., Huff, Chad D., Grigg, John R., Heng, Xiu Ting, Khng, Alexis J., Hollink, Iris H. I. M., Morrison, Margaux A., Owen, Leah A., Anderson, Katherine, Kinard, Krista, Greenlees, Rebecca, Novacic, Danica, Nida Sen, H., Zein, Wadih M., Rodgers, George M., Vitale, Albert T., Haider, Neena B., Hillmer, Axel M., Ng, Pauline C., Shankaracharya, Cheng, Anson, Zheng, Linda, Gillies, Mark C., van Slegtenhorst, Marjon, van Hagen, P. Martin, Missotten, Tom O. A. R., Farley, Gary L., Polo, Michael, Malatack, James, Curtin, Julie, Martin, Frank, Arbuckle, Susan, Alexander, Stephen I., Chircop, Megan, Davila, Sonia, Digre, Kathleen B., Jamieson, Robyn V., DeAngelis, Margaret M.

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TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands Por van der Meij, Karuna R.M., Sistermans, Erik A., Macville, Merryn V.E., Stevens, Servi J.C., Bax, Caroline J., Bekker, Mireille N., Bilardo, Caterina M., Boon, Elles M.J., Boter, Marjan, Diderich, Karin E.M., de Die-Smulders, Christine E.M., Duin, Leonie K., Faas, Brigitte H.W., Feenstra, Ilse, Haak, Monique C., Hoffer, Mariëtte J.V., den Hollander, Nicolette S., Hollink, Iris H.I.M., Jehee, Fernanda S., Knapen, Maarten F.C.M., Kooper, Angelique J.A., van Langen, Irene M., Lichtenbelt, Klaske D., Linskens, Ingeborg H., van Maarle, Merel C., Oepkes, Dick, Pieters, Mijntje J., Schuring-Blom, G. Heleen, Sikkel, Esther, Sikkema-Raddatz, Birgit, Smeets, Dominique F.C.M., Srebniak, Malgorzata I., Suijkerbuijk, Ron F., Tan-Sindhunata, Gita M., van der Ven, A. Jeanine E.M., van Zelderen-Bhola, Shama L., Henneman, Lidewij, Galjaard, Robert-Jan H., Van Opstal, Diane, Weiss, Marjan M.

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