Kết quả tìm kiếm - Swagemakers, Sigrid M A
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Maternal diabetes causes developmental delay and death in early-somite mouse embryos Bằng Zhao, Jing, Hakvoort, Theodorus B. M., Ruijter, Jan M., Jongejan, Aldo, Koster, Jan, Swagemakers, Sigrid M. A., Sokolovic, Aleksandar, Lamers, Wouter H.
Được phát hành 2017Text -
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The Rad51 Paralog Rad51B Promotes Homologous Recombinational Repair Bằng Takata, Minoru, Sasaki, Masao S., Sonoda, Eiichiro, Fukushima, Toru, Morrison, Ciaran, Albala, Joanna S., Swagemakers, Sigrid M. A., Kanaar, Roland, Thompson, Larry H., Takeda, Shunichi
Được phát hành 2000Text -
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Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome Bằng Visser, W. Edward, Swagemakers, Sigrid M.A., Őzgűr, Zeliha, Schot, Rachel, Verheijen, Frans W., van Ijcken, Wilfred F.J., van der Spek, Peter J., Visser, Theo J.
Được phát hành 2010Text -
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A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression Bằng Booij, Judith C., ten Brink, Jacoline B., Swagemakers, Sigrid M. A., Verkerk, Annemieke J. M. H., Essing, Anke H. W., van der Spek, Peter J., Bergen, Arthur A. B.
Được phát hành 2010Text -
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Pollitt syndrome patients carry mutation in TTDN1 Bằng Swagemakers, Sigrid M.A., Jaspers, Nicolaas G.J., Raams, Anja, Heijsman, Daphne, Vermeulen, Wim, Troelstra, Christine, Kremer, Andreas, Lincoln, Stephen E., Tearle, Rick, Hoeijmakers, Jan H.J., van der Spek, Peter J.
Được phát hành 2014Text -
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Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis Bằng Barrell, William B., Adel Al-Lami, Hadeel, Goos, Jacqueline A. C., Swagemakers, Sigrid M. A., van Dooren, Marieke, Torban, Elena, van der Spek, Peter J., Mathijssen, Irene M. J., Liu, Karen J.
Được phát hành 2021Text -
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Nuclear factor IB is downregulated in vulvar squamous cell carcinoma (VSCC): Unravelling differentially expressed genes in VSCC through gene expression dataset analysis Bằng Dasgupta, Shatavisha, Ewing-Graham, Patricia C., Van Den Bosch, Thierry P.P., Swagemakers, Sigrid M.A., Santegoets, Lindy A.M., Van Doorn, Helena C., Van Der Spek, Peter J., Koljenović, Senada, Van Kemenade, Folkert J.
Được phát hành 2021Text -
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Type 1 interferon-inducible gene expression in QuantiFERON Gold TB-positive uveitis: A tool to stratify a high versus low risk of active tuberculosis? Bằng La Distia Nora, Rina, Sitompul, Ratna, Bakker, Marleen, Versnel, Marjan A., Swagemakers, Sigrid M. A., van der Spek, Peter J., Susiyanti, Made, Edwar, Lukman, Sjamsoe, Soedarman, Singh, Gurmeet, Handayani, RR Diah, Rothova, Aniki, van Hagen, P. Martin, Dik, Willem A.
Được phát hành 2018Text -
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Combined cellular and soluble mediator analysis for improved diagnosis of vitreoretinal lymphoma Bằng de Hoog, Joeri, Dik, Willem A., Lu, Lucy, Heezen, Kim C., ten Berge, Josianne C., Swagemakers, Sigrid M. A., van der Spek, Peter J., van Dongen, Jacques J. M., van der Velden, Vincent H. J., Rothova, Aniki, Langerak, Anton W.
Được phát hành 2019Text -
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Evaluation of Immunohistochemical Markers, CK17 and SOX2, as Adjuncts to p53 for the Diagnosis of Differentiated Vulvar Intraepithelial Neoplasia (dVIN) Bằng Dasgupta, Shatavisha, Koljenović, Senada, van den Bosch, Thierry P. P., Swagemakers, Sigrid M. A., van der Hoeven, Nick M. A., van Marion, Ronald, van der Spek, Peter J., van Doorn, Helena C., van Kemenade, Folkert J., Ewing-Graham, Patricia C.
Được phát hành 2021Text -
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Exploring Differentially Methylated Genes in Vulvar Squamous Cell Carcinoma Bằng Dasgupta, Shatavisha, Ewing-Graham, Patricia C., Swagemakers, Sigrid M. A., van den Bosch, Thierry P. P., Atmodimedjo, Peggy N., Verbiest, Michael M. P. J., de Haan, Marit, van Doorn, Helena C., van der Spek, Peter J., Koljenović, Senada, van Kemenade, Folkert J.
Được phát hành 2021Text -
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Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies Bằng Coopmans, Eva C., Chunharojrith, Paweena, Neggers, Sebastian J. C. M. M., van der Ent, Marianne W., Swagemakers, Sigrid M. A., Hollink, Iris H., Barendregt, Barbara H., van der Spek, Peter J., van der Lely, Aart-Jan, van Hagen, P. Martin, Dalm, Virgil A. S. H.
Được phát hành 2019Text -
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CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability Bằng Verkerk, Annemieke J. M. H., Zeidler, Shimriet, Breedveld, Guido, Overbeek, Lydia, Huigh, Daphne, Koster, Linda, van der Linde, Herma, de Esch, Celine, Severijnen, Lies-Anne, de Vries, Bert B. A., Swagemakers, Sigrid M. A., Willemsen, Rob, Hoogeboom, A. Jeannette M., van der Spek, Peter J., Oostra, Ben A.
Được phát hành 2018Text -
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Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue Bằng Theil, Arjan F, Mandemaker, Imke K, van den Akker, Emile, Swagemakers, Sigrid M A, Raams, Anja, Wüst, Tatjana, Marteijn, Jurgen A, Giltay, Jacques C, Colombijn, Richard M, Moog, Ute, Kotzaeridou, Urania, Ghazvini, Mehrnaz, von Lindern, Marieke, Hoeijmakers, Jan H J, Jaspers, Nicolaas G J, van der Spek, Peter J, Vermeulen, Wim
Được phát hành 2017Text -
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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype Bằng Theil, Arjan F., Botta, Elena, Raams, Anja, Smith, Desiree E.C., Mendes, Marisa I., Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Carriero, Roberta, Liberi, Giordano, Zardoni, Luca, Swagemakers, Sigrid M.A., Salomons, Gajja S., Sarasin, Alain, Lehmann, Alan, van der Spek, Peter J., Ogi, Tomoo, Hoeijmakers, Jan H.J., Vermeulen, Wim, Orioli, Donata
Được phát hành 2019Text -
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Impaired Vascular Contractility and Aortic Wall Degeneration in Fibulin-4 Deficient Mice: Effect of Angiotensin II Type 1 (AT(1)) Receptor Blockade Bằng Moltzer, Els, te Riet, Luuk, Swagemakers, Sigrid M. A., van Heijningen, Paula M., Vermeij, Marcel, van Veghel, Richard, Bouhuizen, Angelique M., van Esch, Joep H. M., Lankhorst, Stephanie, Ramnath, Natasja W. M., de Waard, Monique C., Duncker, Dirk J., van der Spek, Peter J., Rouwet, Ellen V., Danser, A. H. Jan, Essers, Jeroen
Được phát hành 2011Text -
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A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis Bằng Goos, Jacqueline A C, Vogel, Walter K, Mlcochova, Hana, Millard, Christopher J, Esfandiari, Elahe, Selman, Wisam H, Calpena, Eduardo, Koelling, Nils, Carpenter, Evan L, Swagemakers, Sigrid M A, van der Spek, Peter J, Filtz, Theresa M, Schwabe, John W R, Iwaniec, Urszula T, Mathijssen, Irene M J, Leid, Mark, Twigg, Stephen R F
Được phát hành 2019Text -
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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy Bằng Botta, Elena, Theil, Arjan F, Raams, Anja, Caligiuri, Giuseppina, Giachetti, Sarah, Bione, Silvia, Accadia, Maria, Lombardi, Anita, Smith, Desiree E C, Mendes, Marisa I, Swagemakers, Sigrid M A, van der Spek, Peter J, Salomons, Gajja S, Hoeijmakers, Jan H J, Yesodharan, Dhanya, Nampoothiri, Sheela, Ogi, Tomoo, Lehmann, Alan R, Orioli, Donata, Vermeulen, Wim
Được phát hành 2021Text -
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Vitreous proteomics, a gateway to improved understanding and stratification of diverse uveitis aetiologies Bằng Schrijver, Benjamin, Kolijn, P. Martijn, ten Berge, Josianne C.E.M., Nagtzaam, Nicole M.A., van Rijswijk, Angelique L.C.T., Swagemakers, Sigrid M.A., van der Spek, Peter J., Missotten, Tom O.A.R., van Velthoven, Mirjam E.J., de Hoog, Joeri, van Hagen, P. Martin, Langerak, Anton W., Dik, Willem A.
Được phát hành 2021Text