Rezultati - Swagemakers, Sigrid M A

Homologous and non-homologous recombination differentially affect DNA damage repair in mice od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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? od 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 od 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) od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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 od 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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