Resultados da pesquisa - Wilhelmina S. Kerstjens‐Frederikse

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  1. 1
    The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport?

    The origin of fetal sterols in second-trimester amniotic fluid: endogenous synthesis or maternal-fetal transport? Por Maria E. Baardman, Jan Jaap Erwich, Rolf M.F. Berger, Robert M.W. Hofstra, Wilhelmina S. Kerstjens‐Frederikse, Dieter Lütjohann, Torsten Plösch

    Publicado em 2012
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  2. 2
    The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension

    The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension Por Meindina G. Haarman, Wilhelmina S. Kerstjens‐Frederikse, Theresia R. Vissia-Kazemier, Karel Breeman, Wim Timens, Yvonne J. Vos, M. T. R. Roofthooft, Hans L. Hillege, Rolf M.F. Berger

    Publicado em 2020
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  3. 3
    Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?

    Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives? Por Wilhelmina S. Kerstjens‐Frederikse, Gideon J. du Marchie Sarvaas, Jolien S. Ruiter, Peter C. van den Akker, A M Temmerman, Joost P. van Melle, Robert M.W. Hofstra, Rolf M.F. Berger

    Publicado em 2011
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  4. 4
    P-Glycoprotein-Mediated Drug Interactions in Pregnancy and Changes in the Risk of Congenital Anomalies: A Case-Reference Study

    P-Glycoprotein-Mediated Drug Interactions in Pregnancy and Changes in the Risk of Congenital Anomalies: A Case-Reference Study Por Nur Aizati Athirah Daud, Jorieke E. H. Bergman, Marian K. Bakker, Hao Wang, Wilhelmina S. Kerstjens‐Frederikse, Hermien E. K. de Walle, Henk Groen, Jens H. J. Bos, Eelko Hak, Bob Wilffert

    Publicado em 2015
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  5. 5
    More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

    More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated Por Nicole Corsten‐Janssen, Sulagna C. Saitta, Lies H. Hoefsloot, Donna M. McDonald‐McGinn, D.A. Driscoll, Ronny Derks, Kimberley Dickinson, Wilhelmina S. Kerstjens‐Frederikse, Beverly S. Emanuel, Elaine H. Zackai, Conny M.A. van Ravenswaaij‐Arts

    Publicado em 2013
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  6. 6
    Common arterial trunk and in Lrp2 knock out mice indicate a crucial role of LRP2 in cardiac development

    Common arterial trunk and in Lrp2 knock out mice indicate a crucial role of LRP2 in cardiac development Por Maria E. Baardman, Mathijs V. Zwier, Lambertus J. Wisse, Adriana C. Gittenberger- de Groot, Wilhelmina S. Kerstjens‐Frederikse, Robert M.W. Hofstra, Angelika Jurdzinski, Beerend P. Hierck, Monique R.M. Jongbloed, Rolf M.F. Berger, Torsten Plösch, Marco C. DeRuiter

    Publicado em 2016
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  7. 7
    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics

    Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics Por Nicolien Hanemaaijer, Birgit Sikkema‐Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J. van Essen, Hermine E. Veenstra‐Knol, Wilhelmina S. Kerstjens‐Frederikse, Johanna C. Herkert, Erica H. Gerkes, Lamberta K Leegte, Klaas Kok, Richard J. Sinke, Conny M.A. van Ravenswaaij‐Arts

    Publicado em 2011
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  8. 8
    The Cardiac Phenotype in Patients With a <i>CHD7</i> Mutation

    The Cardiac Phenotype in Patients With a <i>CHD7</i> Mutation Por Nicole Corsten‐Janssen, Wilhelmina S. Kerstjens‐Frederikse, Gideon J. du Marchie Sarvaas, Maria E. Baardman, Marian K. Bakker, Jorieke E. H. Bergman, Hanne Hove, Ketil Heimdal, Cecilie F. Rustad, Raoul C. M. Hennekam, Robert M.W. Hofstra, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij‐Arts, Livia Kapusta

    Publicado em 2013
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  9. 9
    <i>TBX4</i>mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

    <i>TBX4</i>mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension Por Wilhelmina S. Kerstjens‐Frederikse, Ernie M.H.F. Bongers, Marcus T.R. Roofthooft, Edward M. Leter, Johannes M. Douwes, Arie P.J. van Dijk, Anton Vonk Noordegraaf, Krista K. van Dijk-Bos, Lies H. Hoefsloot, Elke S. Hoendermis, Gilles Thomas, Birgit Sikkema‐Raddatz, Robert M.W. Hofstra, Rolf M.F. Berger

    Publicado em 2013
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  10. 10
    CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

    CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations Por Shuang� Li, K. Joeri van der Velde, Dick de Ridder, Aalt D. J. van Dijk, Dimitrios Soudis, Leslie R. Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Mariëlle van Gijn, Kristin M. Abbott, Birgit Sikkema‐Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Richard J. Sinke, Morris A. Swertz

    Publicado em 2020
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  11. 11
    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases Por Francesca Novara, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny M.A. van Ravenswaaij‐Arts, Wilhelmina S. Kerstjens‐Frederikse, Joris Vermeesch, Koenraad Devriendt, Carlos A. Bacino, Andrée Delahaye‐Duriez, Saskia M. Maas, Achille Iolascon, Orsetta Zuffardi

    Publicado em 2017
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  12. 12
    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 Por 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

    Publicado em 2018
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  13. 13
    Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

    Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families Por Bert Callewaert, Andy Willaert, Wilhelmina S. Kerstjens‐Frederikse, Julie De Backer, Koenraad Devriendt, Bruno Albrecht, María A. Ramos-Arroyo, M. Doco‐Fenzy, R Hennekam, Reed E. Pyeritz, O.N. Krogmann, Gabrielle Gillessen-Kaesbach, Emma Wakeling, Serena Nik‐Zainal, Christine Francannet, P. Mauran, C. Booth, Margaret Barrow, R. Dekens, Bart Loeys, Paul Coucke, Anne M. De Paepe

    Publicado em 2007
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  14. 14
    Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene

    Severe Myocardial Fibrosis Caused by a Deletion of the 5’ End of the Lamin A/C Gene Por J. Peter van Tintelen, René A. Tio, Wilhelmina S. Kerstjens‐Frederikse, Jop H. van Berlo, Ludolf G. Boven, Albert J.H. Suurmeijer, Stefan J. White, Johan T. den Dunnen, Gerard J. te Meerman, Yvonne J. Vos, Annemarie H. van der Hout, Jan Osinga, Maarten P. van den Berg, Dirk J. van Veldhuisen, Charles H.C.M. Buys, Robert M.W. Hofstra, Yigal M. Pinto

    Publicado em 2007
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  15. 15
    Rapid Targeted Genomics in Critically Ill Newborns

    Rapid Targeted Genomics in Critically Ill Newborns Por Cleo C. van Diemen, Wilhelmina S. Kerstjens‐Frederikse, Klasien A. Bergman, Tom J. de Koning, Birgit Sikkema‐Raddatz, Joeri K. van der Velde, Kristin M. Abbott, Johanna C. Herkert, Katharina Löhner, Patrick Rump, Martine T. Meems-Veldhuis, Pieter B. Neerincx, Jan D.H. Jongbloed, Conny M.A. van Ravenswaaij‐Arts, Morris A. Swertz, Richard J. Sinke, Irene M. van Langen, Cisca Wijmenga

    Publicado em 2017
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  16. 16
    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

    Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature Por Salima El Chehadeh, Wilhelmina S. Kerstjens‐Frederikse, Julien Thévenon, Paul Kuentz, Ange-Line Bruel, Christel Thauvin-Robinet, Candace Bensignor, Hélène Dollfus, Vincent Laugel, Jean‐Baptiste Rivière, Yannis Duffourd, Caroline Bonnet, Matthieu P. Robert, Rodica Isaiko, Morgane Straub, Catherine Creuzot‐Garcher, Patrick Calvas, Nicolas Chassaing, Bart Loeys, Edwin Reyniers, Geert Vandeweyer, R. Frank Kooy, Miroslava Hančárová, Markéta Havlovicová, Darina Prchalová, Zdeněk Sedláček, Christian Gilissen, Rolph Pfundt, Jolien S. Klein Wassink‐Ruiter, Laurence Faivre

    Publicado em 2016
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  17. 17
    MLL2 mutation spectrum in 45 patients with Kabuki syndrome

    MLL2 mutation spectrum in 45 patients with Kabuki syndrome Por Aimée Paulussen, Alexander P.A. Stegmann, Marinus J. Blok, Demis Tserpelis, Crool Posma-Velter, Yvonne Detisch, Eric Smeets, Annemieke Wagemans, Jaap J.P. Schrander, Marie-José H. van den Boogaard, Jasper van der Smagt, Arie van Haeringen, Irene Stolte‐Dijkstra, Wilhelmina S. Kerstjens‐Frederikse, Grazia M.S. Mancini, Marja W. Wessels, Raoul C. M. Hennekam, Maaike Vreeburg, Joep Geraedts, Thomy de Ravel, Jean‐Pierre Fryns, Hubert Smeets, Koenraad Devriendt, C. T. R. M. Schrander‐Stumpel

    Publicado em 2010
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  18. 18
    Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

    Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families Por Wilhelmina S. Kerstjens‐Frederikse, Ingrid M.B.H. van de Laar, Yvonne J. Vos, Judith M.A. Verhagen, Rolf M.F. Berger, Klaske D. Lichtenbelt, Jolien S. Klein Wassink‐Ruiter, Paul A. van der Zwaag, Gideon J. du Marchie Sarvaas, Klasien A. Bergman, Catia M. Bilardo, Jolien W. Roos‐Hesselink, J. H. P. Janssen, Ingrid M.E. Frohn-Mulder, Karin Y. van Spaendonck‐Zwarts, Joost P. van Melle, Robert M.W. Hofstra, Marja W. Wessels

    Publicado em 2016
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  19. 19
    Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

    Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis Por Patrick Deelen, Sipko van Dam, Johanna C. Herkert, Juha Karjalainen, Harm Brugge, Kristin M. Abbott, Cleo C. van Diemen, Paul A. van der Zwaag, Erica H. Gerkes, Evelien Zonneveld‐Huijssoon, Jelkje J. de Boer-Bergsma, Pytrik Folkertsma, Tessa E. Gillett, K. Joeri van der Velde, Roan Kanninga, Peter C. van den Akker, Sabrina Z. Jan, Edgar T. Hoorntje, Wouter P. te Rijdt, Yvonne J. Vos, Jan D.H. Jongbloed, Conny M.A. van Ravenswaaij‐Arts, Richard J. Sinke, Birgit Sikkema‐Raddatz, Wilhelmina S. Kerstjens‐Frederikse, Morris A. Swertz, Lude Franke

    Publicado em 2019
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  20. 20
    First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

    First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease Por Matina Prapa, Mauro Lago‐Docampo, Emilia M. Swietlik, David Montani, Mélanie Eyries, Marc Humbert, Carrie L. Welch, Wendy K. Chung, Rolf M.F. Berger, Harm Jan Bogaard, Olivier Danhaive, Pilar Escribano Subías, Henning Gall, Barbara Girerd, Ignacio Hernández‐González, Simon Holden, David Hunt, Samara M.A. Jansen, Wilhelmina S. Kerstjens‐Frederikse, David G. Kiely, Pablo Lapunzina, John McDermott, Shahin Moledina, Joanna Pepke‐Żaba, Gary Polwarth, Gwen Schotte, Jair Tenorio, A. A. Roger Thompson, John Wharton, Stephen J. Wort, Karyn Mégy, Rutendo Mapeta, Carmen Treacy, Jennifer M. Martin, Wei Li, Andrew J. Swift, Paul D. Upton, Nicholas W. Morrell, Stefan Gräf, Diana Valverde

    Publicado em 2022
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