Søgeresultater - Swagemakers, Sigrid M A

Homologous and non-homologous recombination differentially affect DNA damage repair in mice af Essers, Jeroen, van Steeg, Harry, de Wit, Jan, Swagemakers, Sigrid M.A., Vermeij, Marcel, Hoeijmakers, Jan H.J., Kanaar, Roland

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Maternal diabetes causes developmental delay and death in early-somite mouse embryos af Zhao, Jing, Hakvoort, Theodorus B. M., Ruijter, Jan M., Jongejan, Aldo, Koster, Jan, Swagemakers, Sigrid M. A., Sokolovic, Aleksandar, Lamers, Wouter H.

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The Rad51 Paralog Rad51B Promotes Homologous Recombinational Repair af 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

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Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome af 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.

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A New Strategy to Identify and Annotate Human RPE-Specific Gene Expression af 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.

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Pollitt syndrome patients carry mutation in TTDN1 af 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.

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Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis af 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.

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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 af 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.

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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? af 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.

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Combined cellular and soluble mediator analysis for improved diagnosis of vitreoretinal lymphoma af 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.

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Evaluation of Immunohistochemical Markers, CK17 and SOX2, as Adjuncts to p53 for the Diagnosis of Differentiated Vulvar Intraepithelial Neoplasia (dVIN) af 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.

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Exploring Differentially Methylated Genes in Vulvar Squamous Cell Carcinoma af 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.

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Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies af 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.

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CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability af 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.

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Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue af 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

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Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype af 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

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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 af 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

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A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis af 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

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Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy af 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

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Vitreous proteomics, a gateway to improved understanding and stratification of diverse uveitis aetiologies af 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.

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