תוצאות חיפוש - Yvonne J. Vos

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  1. 1
    An updated and upgraded<i>L1CAM</i>mutation database

    An updated and upgraded<i>L1CAM</i>mutation database מאת Yvonne J. Vos, Robert M.W. Hofstra

    יצא לאור 2009
    קבל טקסט מלא
    Artigo
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  2. 2
    Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia

    Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia מאת Annemarie H. van der Hout, Grétel G. Oudesluijs, Andrea Venema, Joanne Verheij, Bart Mol, Patrick Rump, Han G. Brunner, Yvonne J. Vos, Anthonie J. van Essen

    יצא לאור 2008
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  3. 3
    The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension

    The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension מאת 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

    יצא לאור 2020
    קבל טקסט מלא
    Artigo
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  4. 4
    Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines

    Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines מאת Johanna C. Herkert, Renée C. Niessen, Maria J.W. Olderode-Berends, Hermine E. Veenstra‐Knol, Yvonne J. Vos, Heleen M. van der Klift, René Scheenstra, Carli M.J. Tops, Arend Karrenbeld, Frans Peters, Robert M.W. Hofstra, Jan H. Kleibeuker, Rolf H. Sijmons

    יצא לאור 2011
    קבל טקסט מלא
    Revisão
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  5. 5
    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

    Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis מאת Yvonne J. Vos, Hermien E. K. de Walle, K. K. Bos, Arjan Stegeman, Annelies M. ten Berge, Monique J. Bruining, Merel C. van Maarle, Mariet W. Elting, Nicolette S. den Hollander, B Hamel, Ana María Fortuna, Lone Sunde, Irene Stolte‐Dijkstra, C. T. R. M. Schrander‐Stumpel, Robert M.W. Hofstra

    יצא לאור 2009
    קבל טקסט מלא
    Artigo
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  6. 6
    Male patients affected by mosaic PCDH19 mutations: five new cases

    Male patients affected by mosaic PCDH19 mutations: five new cases מאת Iris Lange, Patrick Rump, Rinze F. Neuteboom, Paul B. Augustijn, K. Hodges, A. I. Kistemaker, Oebele F. Brouwer, Grazia M.S. Mancini, Hadas Newman, Yvonne J. Vos, Katherine L. Helbig, Cacha Peeters‐Scholte, Marjolein Kriek, N. Knoers, Dick Lindhout, Bobby P.C. Koeleman, Marjan J. A. van Kempen, Eva H. Brilstra

    יצא לאור 2017
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  7. 7
    Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy

    Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy מאת Johanna C. Herkert, Kristin M. Abbott, Erwin Birnie, Martine T. Meems-Veldhuis, Ludolf G. Boven, Marloes Benjamins, Gideon J. du Marchie Sarvaas, Daniela Q.C.M. Barge‐Schaapveld, J. Peter van Tintelen, Paul A. van der Zwaag, Yvonne J. Vos, Richard J. Sinke, Maarten P. van den Berg, Irene M. van Langen, Jan D.H. Jongbloed

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  8. 8
    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 מאת 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

    יצא לאור 2007
    קבל טקסט מלא
    Artigo
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  9. 9
    Lynch Syndrome Caused by Germline <i>PMS2</i> Mutations: Delineating the Cancer Risk

    Lynch Syndrome Caused by Germline <i>PMS2</i> Mutations: Delineating the Cancer Risk מאת Sanne W. ten Broeke, Richard M. Brohet, Carli M.J. Tops, Heleen M. van der Klift, Mary E. Velthuizen, Inge Bernstein, Gabriel Capellà, E. Gómez, Nicoline Hoogerbrugge, Tom G.W. Letteboer, Fred H. Menko, Annika Lindblom, Arjen R. Mensenkamp, Pål Møller, Theo A. van Os, Nils Rahner, Bert J. W. Redeker, Rolf H. Sijmons, Liesbeth Spruijt, Manon Suerink, Yvonne J. Vos, Anja Wagner, Frederik J. Hes, Hans F. A. Vasen, Maartje Nielsen, Juul Wijnen

    יצא לאור 2014
    קבל טקסט מלא
    Artigo
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  10. 10
    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 מאת 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

    יצא לאור 2016
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  11. 11
    Structural Variation of Chromosomes in Autism Spectrum Disorder

    Structural Variation of Chromosomes in Autism Spectrum Disorder מאת Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan M. Friedman, Cees Ketelaars, Yvonne J. Vos, Can Fıçıcıoğlu, Susan J. Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare Gibbons, Ahmad S. Teebi, David Chitayat, Rosanna Weksberg, Ann Thompson, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes, Lonnie Zwaigenbaum, Wendy Roberts, Bridget A. Fernandez, Peter Szatmari, Stephen W. Scherer

    יצא לאור 2008
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  12. 12
    Comprehensive Mutation Analysis of<i>PMS2</i>in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

    Comprehensive Mutation Analysis of<i>PMS2</i>in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome מאת Heleen M. van der Klift, Arjen R. Mensenkamp, Mark Drost, Elsa C. Bik, Yvonne J. Vos, Gilles Thomas, B. Redeker, Yvonne Tiersma, José B.M. Zonneveld, E. Gómez, Tom G.W. Letteboer, Maran J.W. Olderode-Berends, Liselotte P. van Hest, Theo A. van Os, Senno Verhoef, Anja Wagner, Christi J. van Asperen, Sanne W. ten Broeke, Frederik J. Hes, Niels de Wind, Maartje Nielsen, Peter Devilee, Marjolijn J. L. Ligtenberg, Juul Wijnen, Carli M.J. Tops

    יצא לאור 2016
    קבל טקסט מלא
    Artigo
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  13. 13
    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 מאת 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

    יצא לאור 2019
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  14. 14
    Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome

    Cancer Risks for <i>PMS2</i>-Associated Lynch Syndrome מאת Sanne W. ten Broeke, Heleen M. van der Klift, Carli M.J. Tops, Stefan Aretz, Inge Bernstein, Daniel D. Buchanan, Albert de la Chapelle, Gabriel Capellà, Mark Clendenning, Christoph Engel, Steven Gallinger, E. Gómez, Jane C. Figueiredo, Robert W. Haile, Heather L. Hampel, Liselotte van Hest, John L. Hopper, Nicoline Hoogerbrugge, Magnus von Knebel Doeberitz, Loı̈c Le Marchand, Tom G.W. Letteboer, Mark A. Jenkins, Annika Lindblom, Noralane M. Lindor, Arjen R. Mensenkamp, Pål Møller, Polly A. Newcomb, Theo A.M. van Os, Rachel Pearlman, Marta Pineda, Nils Rahner, E. Redeker, Maran J.W. Olderode-Berends, Christophe Rosty, Hans K. Schackert, Rodney J. Scott, Leigha Senter, Liesbeth Spruijt, Verena Steinke‐Lange, Manon Suerink, Stephen N. Thibodeau, Yvonne J. Vos, Anja Wagner, Ingrid Winship, Frederik J. Hes, Hans F. A. Vasen, Juul Wijnen, Maartje Nielsen, Aung Ko Win

    יצא לאור 2018
    קבל טקסט מלא
    Artigo
    הוספה למועדפים
    שמור ב:
  15. 15
    <i>GRIN2A</i>-related disorders: genotype and functional consequence predict phenotype

    <i>GRIN2A</i>-related disorders: genotype and functional consequence predict phenotype מאת Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp, Katie Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H. Brilstra, Oebele F. Brouwer, Petra M.C. Callenbach, Julia Hentschel, Édouard Hirsch, Peter C. Kind, Cyril Mignot, Konrad Platzer, P. Rump, Paul Skehel, David J. A. Wyllie, Giles E. Hardingham, Conny M.A. van Ravenswaaij‐Arts, Gaëtan Lesca, Johannes R. Lemke, Alexis Arzimanoglou, Paul B. Augustijn, Patrick Van Bogaert, Helene Bourry, Peter Burfeind, Yoyo W. Y. Chu, Brian Chung, Diane Doummar, Patrick Edery, Aviva Fattal‐Valevski, Mélanie Fradin, Marion Gérard, Christa de Geus, Boudewijn Gunning, Danielle Hasaerts, Ingo Helbig, Katherine L. Helbig, Rami Abou Jamra, Mélanie Jennesson Lyver, Jolien S. Klein Wassink‐Ruiter, David A. Koolen, Damien Lederer, Roelineke J. Lunsing, Mikaël Mathot, Hélène Maurey, Shay Menascu, Anne Michel, Ghayda Mirzaa, Diana Mitter, Hiltrud Muhle, Rikke S. Møller, Caroline Nava, Margaret O’Brien, Evelyn van Pinxteren-Nagler, Anne van Riesen, Christelle Rougeot, Damien Sanlaville, Jolanda Schieving, Steffen Syrbe, Hermine E. Veenstra‐Knol, Nienke E. Verbeek, Dorothée Ville, Yvonne J. Vos, Pascal Vrielynck, Sabrina Wagner, Sarah Weckhuysen, Marjolein H. Willemsen

    יצא לאור 2018
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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