Suchergebnisse - Kempers, Marlies

Health- related quality of life and self-worth in 10-year old children with congenital hypothyroidism diagnosed by neonatal screening von van der Sluijs Veer, Liesbeth, Kempers, Marlies JE, Maurice-Stam, Heleen, Last, Bob F, Vulsma, Tom, Grootenhuis, Martha A

Volltext Volltext Volltext

Challenges in diagnosis and management of neonatal hyperparathyroidism in a resource-limited country: a case series from a Sudanese family von Hassan, Samar Sabir, Kempers, Marlies, Lugtenberg, Dorien, Abdallah, Asmahan Tajelsir, Musa, Salwa Abdelbagi, Ibrahim, Areej Ahmed, Abdullah, Mohamed Ahmed

Volltext Volltext Volltext

Differences in Aortopathy in Patients with a Bicuspid Aortic Valve with or without Aortic Coarctation von Duijnhouwer, Anthonie, van den Hoven, Allard, Merkx, Remy, Schokking, Michiel, van Kimmenade, Roland, Kempers, Marlies, van Dijk, Arie, de Boer, Menko-Jan, Roos-Hesselink, Jolien

Volltext Volltext Volltext

Cardiac abnormalities in girls with Turner syndrome: ECG abnormalities, myocardial strain imaging, and karyotype–phenotype associations von Noordman, Iris D., Fejzic, Zina, Bos, Melanie, Duijnhouwer, Anthonie L., Weijers, Gert, Kempers, Marlies, Merkx, Remy, van der Velden, Janiëlle A. E. M., Kapusta, Livia

Volltext Volltext Volltext

Sex Assignment and Diagnostics in Infants with Ambiguous Genitalia − A Single-Center Retrospective Study von van Zoest, Martine, Bijker, Else M., Kortmann, Barbara B.M., Kempers, Marlies, van Herwaarden, Antonius E., van der Velden, Janiëlle, Claahsen-van der Grinten, Hedi L.

Volltext Volltext Volltext

No QTc Prolongation in Girls and Women with Turner Syndrome von Noordman, Iris D, Duijnhouwer, Anthonie L, Coert, Misty, Bos, Melanie, Kempers, Marlies, Timmers, Henri J L M, Fejzic, Zina, van der Velden, Janiëlle A E M, Kapusta, Livia

Volltext Volltext Volltext

Two novel presentations of KCNMA1‐related pathology––Expanding the clinical phenotype of a rare channelopathy von Rodrigues Bento, Jotte, Feben, Candice, Kempers, Marlies, van Rij, Maartje, Woiski, Mallory, Devriendt, Koenraad, De Catte, Luc, Baldewijns, Marcella, Alaerts, Maaike, Meester, Josephina, Verstraeten, Aline, Hendson, Willy, Loeys, Bart

Volltext Volltext Volltext

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity von Hadj-Rabia, Smail, Callewaert, Bert L, Bourrat, Emmanuelle, Kempers, Marlies, Plomp, Astrid S, Layet, Valerie, Bartholdi, Deborah, Renard, Marjolijn, Backer, Julie De, Malfait, Fransiska, Vanakker, Olivier M, Coucke, Paul J, De Paepe, Anne M, Bodemer, Christine

Volltext Volltext Volltext

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability von Willems, Anke P., Gundogdu, Mehmet, Kempers, Marlies J. E., Giltay, Jacques C., Pfundt, Rolph, Elferink, Martin, Loza, Bettina F., Fuijkschot, Joris, Ferenbach, Andrew T., van Gassen, Koen L. I., van Aalten, Daan M. F., Lefeber, Dirk J.

Volltext Volltext Volltext

Effect of naproxen on the hypothalamic–pituitary– adrenal axis in healthy volunteers von Eijsbouts, Agnes M M, Kempers, Marlies J E, Kramer, Renske S A, Hopman, Maria T E, van den Hoogen, Frank H J, Laan, Ronald F J M, Hermus, Ad R M M, Sweep, Fred C G J, van de Putte, Leo B A

Volltext Volltext Volltext

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings von Van Gucht, Ilse, Krebsova, Alice, Diness, Birgitte Rode, Laga, Steven, Adlam, Dave, Kempers, Marlies, Samani, Nilesh J., Webb, Tom R., Baranowska, Ania A., Van Den Heuvel, Lotte, Perik, Melanie, Luyckx, Ilse, Peeters, Nils, Votypka, Pavel, Macek, Milan, Meester, Josephina, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart L.

Volltext Volltext Volltext

Inflammation Aggravates Disease Severity in Marfan Syndrome Patients von Radonic, Teodora, de Witte, Piet, Groenink, Maarten, de Waard, Vivian, Lutter, Rene, van Eijk, Marco, Jansen, Marnix, Timmermans, Janneke, Kempers, Marlies, Scholte, Arthur J., Hilhorst-Hofstee, Yvonne, van den Berg, Maarten P., van Tintelen, J. Peter, Pals, Gerard, Baars, Marieke J. H., Mulder, Barbara J. M., Zwinderman, Aeilko H.

Volltext Volltext Volltext

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy von Luyckx, Ilse, MacCarrick, Gretchen, Kempers, Marlies, Meester, Josephina, Geryl, Céline, Rombouts, Olivier, Peeters, Nils, Claes, Charlotte, Boeckx, Nele, Sakalihasan, Natzi, Jacquinet, Adeline, Hoischen, Alexander, Vandeweyer, Geert, Van Lent, Sarah, Saenen, Johan, Van Craenenbroeck, Emeline, Timmermans, Janneke, Duijnhouwer, Anthonie, Dietz, Harry, Van Laer, Lut, Loeys, Bart, Verstraeten, Aline

Volltext Volltext Volltext

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants von van de Laar, Ingrid M. B. H., Arbustini, Eloisa, Loeys, Bart, Björck, Erik, Murphy, Lise, Groenink, Maarten, Kempers, Marlies, Timmermans, Janneke, Roos-Hesselink, Jolien, Benke, Kalman, Pepe, Guglielmina, Mulder, Barbara, Szabolcs, Zoltan, Teixidó-Turà, Gisela, Robert, Leema, Emmanuel, Yaso, Evangelista, Arturo, Pini, Alessandro, von Kodolitsch, Yskert, Jondeau, Guillaume, De Backer, Julie

Volltext Volltext Volltext

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

Volltext Volltext Volltext

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder von Hiatt, Susan M., Thompson, Michelle L., Prokop, Jeremy W., Lawlor, James M.J., Gray, David E., Bebin, E. Martina, Rinne, Tuula, Kempers, Marlies, Pfundt, Rolph, van Bon, Bregje W., Mignot, Cyril, Nava, Caroline, Depienne, Christel, Kalsner, Louisa, Rauch, Anita, Joset, Pascal, Bachmann-Gagescu, Ruxandra, Wentzensen, Ingrid M., McWalter, Kirsty, Cooper, Gregory M.

Volltext Volltext Volltext

Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene von Luyckx, Ilse, Kumar, Ajay A., Reyniers, Edwin, Dekeyser, Emily, Vanderstraeten, Kathleen, Vandeweyer, Geert, Wünnemann, Florian, Preuss, Christoph, Mazzella, Jean-Michaël, Goudot, Guillaume, Messas, Emmanuel, Albuisson, Juliette, Jeunemaitre, Xavier, Eriksson, Per, Mohamed, Salah A., Kempers, Marlies, Salemink, Simone, Duijnhouwer, Anthonie, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.

Volltext Volltext Volltext

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders von Overwater, Eline, Marsili, Luisa, Baars, Marieke J.H., Baas, Annette F., van de Beek, Irma, Dulfer, Eelco, van Hagen, Johanna M., Hilhorst‐Hofstee, Yvonne, Kempers, Marlies, Krapels, Ingrid P., Menke, Leonie A., Verhagen, Judith M.A., Yeung, Kak K., Zwijnenburg, Petra J.G., Groenink, Maarten, van Rijn, Peter, Weiss, Marjan M., Voorhoeve, Els, van Tintelen, J. Peter, Houweling, Arjan C., Maugeri, Alessandra

Volltext Volltext Volltext

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm von Lindsay, Mark E., Schepers, Dorien, Ajit Bolar, Nikhita, Doyle, Jefferson, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J.E., Fishman, Elliot K., Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdullah F., Levy, Howard P., Anderlid, Britt-Marie, Yang, Margaret H., Bongers, Ernie M.H.F., Timmermans, Janneke, Braverman, Alan C., Canham, Natalie, Mortier, Geert R., Brunner, Han G., Byers, Peter H., Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L.

Volltext Volltext Volltext

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation von Beck, David B., Basar, Mohammed A., Asmar, Anthony J., Thompson, Joyce J., Oda, Hirotsugu, Uehara, Daniela T., Saida, Ken, Pajusalu, Sander, Talvik, Inga, D’Souza, Precilla, Bodurtha, Joann, Mu, Weiyi, Barañano, Kristin W., Miyake, Noriko, Wang, Raymond, Kempers, Marlies, Tamada, Tomoko, Nishimura, Yutaka, Okada, Satoshi, Kosho, Tomoki, Dale, Ryan, Mitra, Apratim, Macnamara, Ellen, Matsumoto, Naomichi, Inazawa, Johji, Walkiewicz, Magdalena, Õunap, Katrin, Tifft, Cynthia J., Aksentijevich, Ivona, Kastner, Daniel L., Rocha, Pedro P., Werner, Achim

Volltext Volltext Volltext