The role of DNA dependent protein kinase in synapsis of DNA ends

gan Weterings, Eric, Verkaik, Nicole S., Brüggenwirth, Hennie T., Hoeijmakers, Jan H. J., van Gent, Dik C.
Cyhoeddwyd 2003

The role of DNA dependent protein kinase in synapsis of DNA ends

gan Weterings, Eric, Verkaik, Nicole S., Brüggenwirth, Hennie T., Hoeijmakers, Jan H. J., van Gent, Dik C.
Cyhoeddwyd 2010

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

gan Valstar, Marlies J., Bruggenwirth, Hennie T., Olmer, Renske, Wevers, Ron A., Verheijen, Frans W., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
Cyhoeddwyd 2010

First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm

gan van de Luijtgaarden, Koen M., Heijsman, Daphne, Maugeri, Alessandra, Weiss, Marjan M., Verhagen, Hence J. M., IJpma, Arne, Brüggenwirth, Hennie T., Majoor-Krakauer, Danielle
Cyhoeddwyd yn Hum Genet (2015)

Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples

gan 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
Cyhoeddwyd 2009

Clinical aspects of a large group of adults with Angelman syndrome

gan 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.
Cyhoeddwyd yn Am J Med Genet A (2020)

A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma

gan 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
Cyhoeddwyd 2009

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...

gan 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
Cyhoeddwyd yn Mol Genet Genomic Med (2020)

Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4

gan 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.
Cyhoeddwyd 2006

Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia

gan 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.
Cyhoeddwyd 2012

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation

gan 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.
Cyhoeddwyd 2012

Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity

gan 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.
Cyhoeddwyd yn Sex Dev (2018)

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

gan 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.
Cyhoeddwyd yn Genes (Basel) (2021)

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

gan 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
Cyhoeddwyd yn J Med Genet (2020)

Dual Molecular Diagnosis Contributes to Atypical Prader-Willi Phenotype in Monozygotic Twins

gan 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.
Cyhoeddwyd yn Am J Med Genet A (2017)

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

gan 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.
Cyhoeddwyd yn Acta Obstet Gynecol Scand (2020)

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

gan Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Cyhoeddwyd yn J Am Coll Cardiol (2015)

The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies

gan Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.
Cyhoeddwyd yn Nat Genet (2016)