نتائج البحث - Swagemakers, Sigrid M A

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