Sökresultat - Marlies Kempers

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  1. 1
    Central Congenital Hypothyroidism due to Gestational Hyperthyroidism: Detection Where Prevention Failed

    Central Congenital Hypothyroidism due to Gestational Hyperthyroidism: Detection Where Prevention Failed av Marlies Kempers, David A. van Tijn, A.S. Paul van Trotsenburg, Jan J. M. de Vijlder, Brenda M. Wiedijk, Thomas Vulsma

    Publicerad 2003
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  2. 2
    Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls

    Neonatal Screening for Congenital Hypothyroidism Based on Thyroxine, Thyrotropin, and Thyroxine-Binding Globulin Measurement: Potentials and Pitfalls av Marlies Kempers, C.I. Lanting, Arno van Heijst, A.S. Paul van Trotsenburg, Brenda M. Wiedijk, Jan J. M. de Vijlder, T. Vulsma

    Publicerad 2006
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  3. 3
    Inactivating Mutations in the Gene for Thyroid Oxidase 2 (<i>THOX2</i>) and Congenital Hypothyroidism

    Inactivating Mutations in the Gene for Thyroid Oxidase 2 (<i>THOX2</i>) and Congenital Hypothyroidism av J.C. Moreno, Hennie Bikker, Marlies Kempers, A.S. Paul van Trotsenburg, Frank Baas, Jan J. M. de Vijlder, Thomas Vulsma, Carrie Ris‐Stalpers

    Publicerad 2002
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  4. 4
    Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

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

    Publicerad 2017
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  5. 5
    Intellectual and Motor Development of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening

    Intellectual and Motor Development of Young Adults with Congenital Hypothyroidism Diagnosed by Neonatal Screening av Marlies Kempers, Liesbeth van der Sluijs Veer, Maria W. G. Nijhuis‐van der Sanden, Libbe Kooistra, Brenda M. Wiedijk, Irene R. Faber, Bob F. Last, Jan J. M. de Vijlder, Martha A. Grootenhuis, T. Vulsma

    Publicerad 2006
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  6. 6
    Neonatal Screening for Congenital Hypothyroidism in The Netherlands: Cognitive and Motor Outcome at 10 Years of Age

    Neonatal Screening for Congenital Hypothyroidism in The Netherlands: Cognitive and Motor Outcome at 10 Years of Age av Marlies Kempers, Liesbeth van der Sluijs Veer, Maria W. G. Nijhuis‐van der Sanden, C.I. Lanting, Libbe Kooistra, Brenda M. Wiedijk, Bob F. Last, Jan J. M. de Vijlder, Martha A. Grootenhuis, Thomas Vulsma

    Publicerad 2006
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  7. 7
    Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes

    Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes av Dorien Proost, Geert Vandeweyer, Josephina Meester, Simone Salemink, Marlies Kempers, Christie Ingram, Nils Peeters, Johan Saenen, Christiaan Vrints, Ronald V. Lacro, Dan M. Roden, Wim Wuyts, Harry C. Dietz, Geert Mortier, Bart Loeys, Lut Van Laer

    Publicerad 2015
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  8. 8
    Inflammation Aggravates Disease Severity in Marfan Syndrome Patients

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

    Publicerad 2012
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  9. 9
    Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study

    Pregnancy and Delivery Outcomes in Vascular Ehlers–Danlos Syndrome: A Retrospective Multicentre Cohort Study av Lisa M. van den Bersselaar, Ingrid M.B.H. van de Laar, Marieke J.H. Baars, Annette F. Baas, Eelco Dulfer, Apollonia T. J. M. Helderman‐van den Enden, Yvonne Hilhorst‐Hofstee, Robert M. Kauling, Marlies Kempers, Martijn A. Oudijk, Alessandra Maugeri, Hennie T. Brüggenwirth, Arjan C. Houweling, Serwet Demirdas

    Publicerad 2025
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  10. 10
    Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives

    Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives av Judith M.A. Verhagen, Marlies Kempers, Luc Cozijnsen, Berto J. Bouma, Anthonie L. Duijnhouwer, Jan G. Post, Yvonne Hilhorst‐Hofstee, Sebastiaan C.A.M. Bekkers, Wilhelmina S. Kerstjens‐Frederikse, Thomas J. van Brakel, Eric Lambermon, Marja W. Wessels, Bart Loeys, Jolien W. Roos‐Hesselink, Ingrid M.B.H. van de Laar

    Publicerad 2018
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  11. 11
    A Dominant-Negative<i>GFI1B</i>Mutation in the Gray Platelet Syndrome

    A Dominant-Negative<i>GFI1B</i>Mutation in the Gray Platelet Syndrome av Davide Monteferrario, Nikhita Bolar, Anna E. Marneth, Konnie M. Hebeda, Saskia M. Bergevoet, Hans Veenstra, Britta A. P. Laros‐van Gorkom, Marius MacKenzie, Cyrus Khandanpour, Lacramiora Botezatu, Erik Fransén, Guy Van Camp, Anthonie L. Duijnhouwer, Simone Salemink, Brigith Willemsen, Gerwin Huls, Frank Preijers, Waander L. van Heerde, Joop H. Jansen, Marlies Kempers, Bart Loeys, Lut Van Laer, Bert A. van der Reijden

    Publicerad 2013
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  12. 12
    Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

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

    Publicerad 2018
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  13. 13
    Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

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

    Publicerad 2012
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  14. 14
    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation av David B. Beck, Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D’Souza, Joann Bodurtha, Weiyi Mu, Kristin Barañano, Noriko Miyake, Raymond Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, Tomoki Kosho, Ryan Dale, Apratim Mitra, Ellen F. Macnamara, Naomichi Matsumoto, Johji Inazawa, Magdalena Walkiewicz, Katrin Õunap, Cynthia J. Tifft, Ivona Aksentijevich, Daniel L. Kastner, Pedro P. Rocha, Achim Werner

    Publicerad 2021
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  15. 15
    Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients

    Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients av Serwet Demirdas, Lisa M. van den Bersselaar, Rosan Lechner, J.D. Bos, Suzanne Alsters, Marieke J.H. Baars, Annette F. Baas, Özlem Baysal, Saskia N. van der Crabben, Eelco Dulfer, Noor A. A. Giesbertz, Apollonia T.J.M. Helderman-van den Enden, Yvonne Hilhorst‐Hofstee, Marlies Kempers, Fenne L. Komdeur, Bart Loeys, Daniëlle Majoor‐Krakauer, Charlotte W. Ockeloen, Eline Overwater, J. Peter van Tintelen, Marsha Voorendt, Vivian de Waard, Alessandra Maugeri, Hennie T. Brüggenwirth, Ingrid M.B.H. van de Laar, Arjan C. Houweling

    Publicerad 2024
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  16. 16
    Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

    Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features av Valter Tucci, Tjitske Kleefstra, Andrea Hardy, Ines Heise, Silvia Maggi, Marjolein H. Willemsen, Helen Hilton, Chris Esapa, Michelle Simon, Maria-Teresa Buenavista, Liam J. McGuffin, Lucie Vizor, Luca Dodero, Sotirios A. Tsaftaris, Rosario Romero, Willy N. Nillesen, Lisenka E.L.M. Vissers, Marlies Kempers, Anneke T. Vulto-van Silfhout, Zafar Iqbal, Marta Orlando, Alessandro Maccione, Glenda Lassi, Pasqualina Farisello, Andrea Contestabile, Federico Tinarelli, Thierry Nieus, Andrea Raimondi, Barbara Greco, Daniela Cantatore, Laura Gasparini, Luca Berdondini, Angelo Bifone, Alessandro Gozzi, Sara Wells, Patrick M. Nolan

    Publicerad 2014
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  17. 17
    A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies

    A mutation update for the <i>FLNC</i> gene in myopathies and cardiomyopathies av Job A.J. Verdonschot, Els K. Vanhoutte, Godelieve R.F. Claes, Apollonia T. J. M. Helderman‐van den Enden, Janneke G. J. Hoeijmakers, Debby M.E.I. Hellebrekers, Amber de Haan, Imke Christiaans, Ronald H. Lekanne Deprez, Hanne M. Boen, Emeline M. Van Craenenbroeck, Bart Loeys, Yvonne M. Hoedemaekers, Carlo Marcelis, Marlies Kempers, Esther Brusse, Jaap I. van Waning, Annette F. Baas, Dennis Dooijes, Folkert W. Asselbergs, Daniela Q.C.M. Barge‐Schaapveld, Pieter Koopman, Arthur van den Wijngaard, Stéphane Heymans, Ingrid P.C. Krapels, Han G. Brunner

    Publicerad 2020
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  18. 18
    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

    De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome av Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Stanislav S. Kholmanskikh, Brian J. O’Roak, Christian Gilissen, Sabine Gijsen, Christopher T. Sullivan, Susan L. Christian, Omar Abdul‐Rahman, Joan Atkin, Nicolas Chassaing, Valérie Drouin‐Garraud, Andrew E. Fry, Jean‐Pierre Fryns, Karen W. Gripp, Marlies Kempers, Tjitske Kleefstra, Grazia M.S. Mancini, Małgorzata J.M. Nowaczyk, Conny M.A. van Ravenswaaij‐Arts, Tony Roscioli, Michael Marble, Jill A. Rosenfeld, Victoria Mok Siu, Bert B.A. de Vries, Jay Shendure, Alain Verloès, Joris A. Veltman, Han G. Brunner, M. Elizabeth Ross, Daniela T. Pilz, William B. Dobyns

    Publicerad 2012
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  19. 19
    Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

    Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor av Elisabeth Gillis, Ajay Kumar, Ilse Luyckx, Christoph Preuß, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Zerbino Dd, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco‐Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M.A. Verhagen, Ingrid M.B.H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Němčíková, Alice Krebsová, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaı̂tre, Juliette Albuisson, Per Eriksson, Grégor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart Loeys

    Publicerad 2017
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  20. 20
    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

    WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features av Cara Skraban, Constance Wells, Preetha Markose, Megan T. Cho, Addie I. Nesbitt, Ping Yee Billie Au, Amber Begtrup, John Bernat, Lynne M. Bird, Kajia Cao, Arjan P.M. de Brouwer, Elizabeth Denenberg, Ganka Douglas, Kristin McDonald Gibson, Katheryn Grand, Alice Goldenberg, A. Micheil Innes, Jane Juusola, Marlies Kempers, Esther Kinning, David Markie, Martina Owens, Katelyn Payne, Richard Person, Rolph Pfundt, Amber Stocco, Claire Turner, Nienke E. Verbeek, Laurence E. Walsh, Taylor Warner, Patricia G. Wheeler, Dagmar Wieczorek, Alisha Wilkens, Evelien Zonneveld‐Huijssoon, Tjitske Kleefstra, Stephen P. Robertson, Avni Santani, Koen L.I. van Gassen, Matthew A. Deardorff

    Publicerad 2017
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