Jejunoileal atresia and cystic fibrosis: don’t miss it

Por Siersma, Carolien L, Rottier, Bart L, Hulscher, Jan BF, Bouman, Katelijne, van Stuijvenberg, Margriet
Publicado em 2012

The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

Por Bouman, Katelijne, Bakker, Marian K., Birnie, Erwin, ter Beek, Lies, Bilardo, Caterina M., van Langen, Irene M., de Walle, Hermien E. K.
Publicado no BMC Pregnancy Childbirth (2017)

The implementation of unit-based perinatal mortality audit in perinatal cooperation units in the northern region of the Netherlands

Por van Diem Mariet Th, Timmer Albertus, Bergman Klasien A, Bouman Katelijne, van Egmond Nico, Stant Dennis A, Ulkeman Lida H M, Veen Wenda B, Erwich JanJaapHM
Publicado em 2012-07-01

The implementation of unit-based perinatal mortality audit in perinatal cooperation units in the northern region of the Netherlands

Por van Diem, Mariet Th, Timmer, Albertus, Bergman, Klasien A, Bouman, Katelijne, van Egmond, Nico, Stant, Dennis A, Ulkeman, Lida H M, Veen, Wenda B, Erwich, JanJaapHM
Publicado em 2012

NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results

Por Sikkema-Raddatz, Birgit, Johansson, Lennart F., de Boer, Eddy N., Boon, Elles M. J., Suijkerbuijk, Ron F., Bouman, Katelijne, Bilardo, Catia M., Swertz, Morris A., Dijkstra, Martijn, van Langen, Irene M., Sinke, Richard J., te Meerman, Gerard J.
Publicado no Sci Rep (2016)

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

Por Heijligers, Malou, van Montfoort, Aafke, Meijer-Hoogeveen, Madelon, Broekmans, Frank, Bouman, Katelijne, Homminga, Irene, Dreesen, Jos, Paulussen, Aimee, Engelen, John, Coonen, Edith, van der Schoot, Vyne, van Deursen-Luijten, Marieke, Muntjewerff, Nienke, Peeters, Andrea, van Golde, Ron, van der Hoeven, Mark, Arens, Yvonne, de Die-Smulders, Christine
Publicado no J Assist Reprod Genet (2018)

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Por Corsten‐Janssen, Nicole, Bouman, Katelijne, Diphoorn, Janouk C. D., Scheper, Arjen J., Kinds, Rianne, el Mecky, Julia, Breet, Hanna, Verheij, Joke B. G. M., Suijkerbuijk, Ron, Duin, Leonie K., Manten, Gwendolyn T. R., van Langen, Irene M., Sijmons, Rolf H., Sikkema‐Raddatz, Birgit, Westers, Helga, van Diemen, Cleo C.
Publicado no Prenat Diagn (2020)

Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study

Por Boormans, Elisabeth MA, Birnie, Erwin, Wildschut, Hajo I, Schuring-Blom, Heleen G, Oepkes, Dick, van Oppen, Carla AC, Nijhuis, Jan G, Macville, Merryn VE, Kooper, Angelique JA, Huijsdens, Karin, Hoffer, Mariëtte VJ, Go, Attie, Creemers, Johan, Bhola, Shama L, Bilardo, Katia M, Suijkerbuijk, Ron, Bouman, Katelijne, Galjaard, Robert-Jan H, Bonsel, Gouke J, van Lith, Jan MM
Publicado em 2008

Further delineation of the KAT6B molecular and phenotypic spectrum

Por Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill
Publicado no Eur J Hum Genet (2015)

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Por Friederich, Marisa W., Timal, Sharita, Powell, Christopher A., Dallabona, Cristina, Kurolap, Alina, Palacios-Zambrano, Sara, Bratkovic, Drago, Derks, Terry G. J., Bick, David, Bouman, Katelijne, Chatfield, Kathryn C., Damouny-Naoum, Nadine, Dishop, Megan K., Falik-Zaccai, Tzipora C., Fares, Fuad, Fedida, Ayalla, Ferrero, Ileana, Gallagher, Renata C., Garesse, Rafael, Gilberti, Micol, González, Cristina, Gowan, Katherine, Habib, Clair, Halligan, Rebecca K., Kalfon, Limor, Knight, Kaz, Lefeber, Dirk, Mamblona, Laura, Mandel, Hanna, Mory, Adi, Ottoson, John, Paperna, Tamar, Pruijn, Ger J. M., Rebelo-Guiomar, Pedro F., Saada, Ann, Sainz, Bruno, Salvemini, Hayley, Schoots, Mirthe H., Smeitink, Jan A., Szukszto, Maciej J., ter Horst, Hendrik J., van den Brandt, Frans, van Spronsen, Francjan J., Veltman, Joris A., Wartchow, Eric, Wintjes, Liesbeth T., Zohar, Yaniv, Fernández-Moreno, Miguel A., Baris, Hagit N., Donnini, Claudia, Minczuk, Michal, Rodenburg, Richard J., Van Hove, Johan L. K.
Publicado no Nat Commun (2018)

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Por Lahrouchi, Najim, Postma, Alex V., Salazar, Christian M., De Laughter, Daniel M., Tjong, Fleur, Piherová, Lenka, Bowling, Forrest Z., Zimmerman, Dominic, Lodder, Elisabeth M., Ta-Shma, Asaf, Perles, Zeev, Beekman, Leander, Ilgun, Aho, Gunst, Quinn, Hababa, Mariam, Škorić-Milosavljević, Doris, Stránecký, Viktor, Tomek, Viktor, de Knijff, Peter, de Leeuw, Rick, Robinson, Jamille Y., Burn, Sabrina C., Mustafa, Hiba, Ambrose, Matthew, Moss, Timothy, Jacober, Jennifer, Niyazov, Dmitriy M., Wolf, Barry, Kim, Katherine H., Cherny, Sara, Rousounides, Andreas, Aristidou-Kallika, Aphrodite, Tanteles, George, Ange-Line, Bruel, Denommé-Pichon, Anne-Sophie, Francannet, Christine, Ortiz, Damara, Haak, Monique C., Ten Harkel, Arend D.J., Manten, Gwendolyn T.R., Dutman, Annemiek C., Bouman, Katelijne, Magliozzi, Monia, Radio, Francesca Clementina, Santen, Gijs W.E., Herkert, Johanna C., Brown, H. Alex, Elpeleg, Orly, van den Hoff, Maurice J.B., Mulder, Barbara, Airola, Michael V., Kmoch, Stanislav, Barnett, Joey V., Clur, Sally-Ann, Frohman, Michael A., Bezzina, Connie R.
Publicado no J Clin Invest (2021)