Výsledky vyhledávání - Van den Ouweland, Ans M W

Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death Autor Kats-Ugurlu, Gursah, Hogeveen, Marije, Driessen, Ann, van den Ouweland, Ans M. W., de Kaa, Christina Hulsbergen-van

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Retinal haemangioblastomas in von Hippel–Lindau germline mutation carriers: progression, complications and treatment outcome Autor Hajjaj, Anass, van Overdam, Koen A., Oldenburg, Rogier A., Koopmans, Anna E., van den Ouweland, Ans M. W., de Klein, Annelies, Kiliç, Emine

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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis Autor van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.

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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism Autor van Veghel-Plandsoen, Monique M, Wouters, Cokkie H, Kromosoeto, Joan N R, den Ridder-Klünnen, Mariska C, Halley, Dicky J J, van den Ouweland, Ans M W

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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1 Autor van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M., van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M.W.

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Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation Autor Prabowo, Avanita S., Anink, Jasper J., Lammens, Martin, Nellist, Mark, van den Ouweland, Ans M. W., Adle‐Biassette, Homa, Sarnat, Harvey B., Flores‐Sarnat, Laura, Crino, Peter B., Aronica, Eleonora

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Peutz–Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis Autor van Lier, Margot G F, Korsse, Susanne E, Mathus-Vliegen, Elisabeth M H, Kuipers, Ernst J, van den Ouweland, Ans M W, Vanheusden, Kathleen, van Leerdam, Monique E, Wagner, Anja

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Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease Autor Tarailo-Graovac, Maja, Drögemöller, Britt I., Wasserman, Wyeth W., Ross, Colin J. D., van den Ouweland, Ans M. W., Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D. M., Blomqvist, Maria

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Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients Autor van den Ouweland, Ans M W, Elfferich, Peter, Zonnenberg, Bernard A, Arts, Willem F, Kleefstra, Tjitske, Nellist, Mark D, Millan, Jose M, Withagen-Hermans, Caroline, Maat-Kievit, Anneke J A, Halley, Dicky J J

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Prevalence of the variant allele rs61764370 T>G in the 3′UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families Autor Hollestelle, Antoinette, Pelletier, Cory, Hooning, Maartje, Crepin, Ellen, Schutte, Mieke, Look, Maxime, Collee, J. Margriet, Nieuwlaat, Anja, Dorssers, Lambert C. J., Seynaeve, Caroline, Aulchenko, Yurii S., Martens, John W. M., van den Ouweland, Ans M. W., Weidhaas, Joanne B.

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Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk Autor Liu, Jingjing, Prager–van der Smissen, Wendy J. C., Schmidt, Marjanka K., Collée, J. Margriet, Cornelissen, Sten, Lamping, Roy, Nieuwlaat, Anja, Foekens, John A., Hooning, Maartje J., Verhoef, Senno, van den Ouweland, Ans M. W., Hogervorst, Frans B. L., Martens, John W. M., Hollestelle, Antoinette

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Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11 Autor Wuyts, Wim, Ramlakhan, Sarvan, Van Hul, Wim, Hecht, Jacqueline T., van den Ouweland, Ans M. W., Raskind, Wendy H., Hofstede, Floris C., Reyniers, Edwin, Wells, Dan E., de Vries, Bert, Conrad, Ernest U., Hill, April, Zalatayev, Dmitry, Weissenbach, Jean, Wagner, Michael J., Bakker, Egbert, Halley, Dicky J. J., Willems, Patrick J.

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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands Autor Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne

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Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex Autor Mühlebner, Angelika, van Scheppingen, Jackelien, Hulshof, Hanna M., Scholl, Theresa, Iyer, Anand M., Anink, Jasper J., van den Ouweland, Ans M. W., Nellist, Mark D., Jansen, Floor E., Spliet, Wim G. M., Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B., Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A., Feucht, Martha, Aronica, Eleonora

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Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis Autor Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability Autor Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.

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Proper genomic profiling of (BRCA1‐mutated) basal‐like breast carcinomas requires prior removal of tumor infiltrating lymphocytes Autor Massink, Maarten P.G., Kooi, Irsan E., van Mil, Saskia E., Jordanova, Ekaterina S., Ameziane, Najim, Dorsman, Josephine C., van Beek, Daphne M., van der Voorn, J. Patrick, Sie, Daoud, Ylstra, Bauke, van Deurzen, Carolien H.M., Martens, John W., Smid, Marcel, Sieuwerts, Anieta M., de Weerd, Vanja, Foekens, John A., van den Ouweland, Ans M.W., van Dyk, Ewald, Nederlof, Petra M., Waisfisz, Quinten, Meijers-Heijboer, Hanne

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Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia Autor Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A

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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines Autor Chau, Cindy, van Doorn, Remco, van Poppelen, Natasha M., van der Stoep, Nienke, Mensenkamp, Arjen R., Sijmons, Rolf H., van Paassen, Barbara W., van den Ouweland, Ans M. W., Naus, Nicole C., van der Hout, Annemieke H., Potjer, Thomas P., Bleeker, Fonnet E., Wevers, Marijke R., van Hest, Liselotte P., Jongmans, Marjolijn C. J., Marinkovic, Marina, Bleeker, Jaco C., Jager, Martine J., Luyten, Gregorius P. M., Nielsen, Maartje

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Leiden open variation database of the MUTYH gene Autor Astrid A. Out, Carli M.J. Tops, Maartje Nielsen, Marjan M. Weiss, Ivonne J.H.M. van Minderhout, Ivo F.A.C. Fokkema, Marie‐Pierre Buisine, Kathleen Claes, Chrystelle Colas, Riccardo Fodde, Florentia Fostira, Patrick Franken, Mette Gaustadnes, Karl Heinimann, Shirley V. Hodgson, Frans B.L. Hogervorst, Elke Holinski‐Feder, Kristina Lagerstedt‐Robinson, Sylviane Olschwang, van den Ouweland Ans M.W., E. Redeker, Rodney J. Scott, Bruno Vankeirsbilck, Rikke Veggerby Grønlund, Juul Wijnen, Friedrik P. Wikman, Stefan Aretz, Julian R. Sampson, Peter Devilee, Johan T. den Dunnen, Frederik J. Hes

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