Search Results - Brüggenwirth, Hennie T.

The role of DNA dependent protein kinase in synapsis of DNA ends by Weterings, Eric, Verkaik, Nicole S., Brüggenwirth, Hennie T., Hoeijmakers, Jan H. J., van Gent, Dik C.

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The role of DNA dependent protein kinase in synapsis of DNA ends by Weterings, Eric, Verkaik, Nicole S., Brüggenwirth, Hennie T., Hoeijmakers, Jan H. J., van Gent, Dik C.

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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype by Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.

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First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm by van de Luijtgaarden, Koen M., Heijsman, Daphne, Maugeri, Alessandra, Weiss, Marjan M., Verhagen, Hence J. M., IJpma, Arne, Brüggenwirth, Hennie T., Majoor-Krakauer, Danielle

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Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples by Van Opstal, Diane, Boter, Marjan, de Jong, Danielle, van den Berg, Cardi, Brüggenwirth, Hennie T, Wildschut, Hajo I J, de Klein, Annelies, Galjaard, Robert-Jan H

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Clinical aspects of a large group of adults with Angelman syndrome by den Besten, Inge, de Jong, Rianne F., Geerts‐Haages, Amber, Bruggenwirth, Hennie T., Koopmans, Marije, Brooks, Alice, Elgersma, Ype, Festen, Dederieke A. M., Valstar, Marlies J.

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A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma by Hersmus, Remko, de Leeuw, Bertie HCGM, Stoop, Hans, Bernard, Pascal, van Doorn, Helena C, Brüggenwirth, Hennie T, Drop, Stenvert LS, Oosterhuis, J Wolter, Harley, Vincent R, Looijenga, Leendert HJ

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A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman... by Geerts‐Haages, Amber, Bossuyt, Stijn N. V., den Besten, Inge, Bruggenwirth, Hennie, van der Burgt, Ineke, Yntema, Helger G., Punt, A. Mattijs, Brooks, Alice, Elgersma, Ype, Distel, Ben, Valstar, Marlies

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Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4 by Mari, Pierre-Olivier, Florea, Bogdan I., Persengiev, Stephan P., Verkaik, Nicole S., Brüggenwirth, Hennie T., Modesti, Mauro, Giglia-Mari, Giuseppina, Bezstarosti, Karel, Demmers, Jeroen A. A., Luider, Theo M., Houtsmuller, Adriaan B., van Gent, Dik C.

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How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies by Klapwijk, Jasmijn E., Srebniak, Malgorzata I., Go, Attie T. J. I., Govaerts, Lutgarde C. P., Lewis, Celine, Hammond, Jennifer, Hill, Melissa, Lou, Stina, Vogel, Ida, Ormond, Kelly E., Diderich, Karin E. M., Brüggenwirth, Hennie T., Riedijk, Sam R.

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Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia by Juniarto, A. Zulfa, van der Zwan, Yvonne G., Santosa, Ardy, Hersmus, Remko, de Jong, Frank H., Olmer, Renske, Bruggenwirth, Hennie T., Themmen, Axel P. N., Wolffenbuttel, Katja P., Looijenga, Leendert H. J., Faradz, Sultana M. H., Drop, Stenvert L. S.

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A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation by Hersmus, Remko, van der Zwan, Yvonne G., Stoop, Hans, Bernard, Pascal, Sreenivasan, Rajini, Oosterhuis, J. Wolter, Brüggenwirth, Hennie T., de Boer, Suzan, White, Stefan, Wolffenbuttel, Katja P., Alders, Marielle, McElreavy, Kenneth, Drop, Stenvert L. S., Harley, Vincent R., Looijenga, Leendert H. J.

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Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature by Rosenberg, Anna G. W., Wellink, Charlotte M., Tellez Garcia, Juan M., Pellikaan, Karlijn, Van Abswoude, Denise H., Davidse, Kirsten, Van Zutven, Laura J. C. M., Brüggenwirth, Hennie T., Resnick, James L., Van der Lely, Aart J., De Graaff, Laura C. G.

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Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity by van Bever, Yolande, Wolffenbuttel, Katja P., Brüggenwirth, Hennie T., Blom, Eric, de Klein, Annelies, Eussen, Bert H.J., van der Windt, Florijn, Hannema, Sabine E., Dessens, Arianne B., Dorssers, Lambert C.J., Biermann, Katharina, Hersmus, Remko, de Rijke, Yolanda B., Looijenga, Leendert H.J.

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The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature by Pellikaan, Karlijn, van Woerden, Geeske M., Kleinendorst, Lotte, Rosenberg, Anna G. W., Horsthemke, Bernhard, Grosser, Christian, van Zutven, Laura J. C. M., van Rossum, Elisabeth F. C., van der Lely, Aart J., Resnick, James L., Brüggenwirth, Hennie T., van Haelst, Mieke M., de Graaff, Laura C. G.

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Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development by van Bever, Yolande, Brüggenwirth, Hennie T, Wolffenbuttel, Katja P, Dessens, Arianne B, Groenenberg, Irene A L, Knapen, Maarten F C M, De Baere, Elfride, Cools, Martine, van Ravenswaaij-Arts, Conny M A, Sikkema-Raddatz, Birgit, Claahsen-van der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E

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Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge by Brosens, Erwin, Peters, Nina C. J., van Weelden, Kim S., Bendixen, Charlotte, Brouwer, Rutger W. W., Sleutels, Frank, Bruggenwirth, Hennie T., van Ijcken, Wilfred F. J., Veenma, Danielle C. M., Otter, Suzan C. M. Cochius-Den, Wijnen, Rene M. H., Eggink, Alex J., van Dooren, Marieke F., Reutter, Heiko Martin, Rottier, Robbert J., Schnater, J. Marco, Tibboel, Dick, de Klein, Annelies

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Dual Molecular Diagnosis Contributes to Atypical Prader-Willi Phenotype in Monozygotic Twins by Jehee, Fernanda S., de Oliveira, Valdirene T., Gurgel-Giannetti, Juliana, Pietra, Rafaella X., Rubatino, Fernando V.M., Carobin, Natália V., Vianna, Gabrielle S., de Freitas, Mariana L., Fernandes, Karla S., Ribeiro, Beatriz S.V., Brüggenwirth, Hennie T., Ali-Amin, Roza, White, Janson J., Akdemir, Zeynep C., Jhangiani, Shalini N., Gibbs, Richard A, Lupski, James R., Varela, Monica C., Koiffmann, Célia, Rosenberg, Carla, Carvalho, Cláudia M. B.

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The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies by Diderich, Karin E. M., Romijn, Kathleen, Joosten, Marieke, Govaerts, Lutgarde C. P., Polak, Marike, Bruggenwirth, Hennie T., Wilke, Martina, van Slegtenhorst, Marjon A., van Bever, Yolande, Brooks, Alice S., Mancini, Grazia M. S., van de Laar, Ingrid M. B. H., Kromosoeto, Joan N. R., Knapen, Maarten F. C. M., Go, Attie T. J. I., Van Opstal, Diane, Hoefsloot, Lies H., Galjaard, Robert‐Jan H., Srebniak, Malgorzata I.

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Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease by Verhagen, Judith M. A., Burger, Joyce, Bekkers, Jos A., den Dekker, Alexander T., von der Thüsen, Jan H., Zajec, Marina, Brüggenwirth, Hennie T., van der Sterre, Marianne L. T., van den Born, Myrthe, Luider, Theo M., van IJcken, Wilfred F. J., Wessels, Marja W., Essers, Jeroen, Roos-Hesselink, Jolien W., van der Pluijm, Ingrid, van de Laar, Ingrid M. B. H., Brosens, Erwin

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