Resultats de la cerca - Anthonie J. van Essen

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  1. 1
    The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC)

    The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC) per Fransiska Malfait, Peter De Coster, Ingrid Haußer, Anthonie J. van Essen, Peter Franck, Alain Colige, Betty Nusgens, Luc Martens, Anne De Paepe

    Publicat 2004
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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 per 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

    Publicat 2008
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  3. 3
    Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study

    Birth prevalence for congenital limb defects in the northern Netherlands: a 30-year population-based study per Ecaterina Vasluian, Corry K. van der Sluis, Anthonie J. van Essen, Jorieke E. H. Bergman, Pieter U. Dijkstra, Heleen A. Reinders‐Messelink, Hermien E. K. de Walle

    Publicat 2013
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  4. 4
    Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene

    Novel Types of Mutation Responsible for the Dermatosparactic Type of Ehlers–Danlos Syndrome (Type VIIC) and Common Polymorphisms in the ADAMTS2 Gene per Alain Colige, Lieve Nuytinck, Ingrid Haußer, Anthonie J. van Essen, Marc Thiry, Christian Herens, Lesley C. Adès, Fransiska Malfait, Anne De Paepe, Peter Franck, G. Wolff, Jan C. Oosterwijk, J.H. Sillevis Smitt, Charles M. Lapière, Betty Nusgens

    Publicat 2004
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  5. 5
    The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

    The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations per Peter C. van den Akker, Marcel F. Jonkman, Trebor Rengaw, Leena Bruckner‐Tuderman, Cristina Has, Johann Bauer, Alfred Klausegger, Giovanna Zambruno, Daniele Castiglia, Jemima E. Mellerio, John A. McGrath, Anthonie J. van Essen, Robert M.W. Hofstra, Morris A. Swertz

    Publicat 2011
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  6. 6
    High Rate of Mosaicism in Tuberous Sclerosis Complex

    High Rate of Mosaicism in Tuberous Sclerosis Complex per Senno Verhoef, Lida Bakker, Anita M.P. Tempelaars, Arjenne L.W. Hesseling-Janssen, Tadeusz Mazurczak, Sergiusz Jóźwiak, A. Fois, G. Bartalini, Bernard A. Zonnenberg, Anthonie J. van Essen, Dick Lindhout, D. J. J. Halley, Ans M.W. van den Ouweland

    Publicat 1999
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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 per 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

    Publicat 2011
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  8. 8
    Central 22q11.2 deletions

    Central 22q11.2 deletions per Patrick Rump, Nicole de Leeuw, Anthonie J. van Essen, Corien C. Verschuuren‐Bemelmans, Hermine E. Veenstra‐Knol, Mariëlle E.M. Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, William Reardon, Sonja de Munnik, Mariken Ruiter, Ayala Frumkin, Dorit Lev, Christina Evers, Birgit Sikkema‐Raddatz, Trijnie Dijkhuizen, Conny M.A. van Ravenswaaij‐Arts

    Publicat 2014
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  9. 9
    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

    Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly per Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, Lennart Johansson, Anthonie J. van Essen, Johanna B. G. M. Verheij, Hermine E. Veenstra‐Knol, E. Redeker, Marcel M.A.M. Mannens, Morris A. Swertz, Behrooz Z. Alizadeh, Conny M.A. van Ravenswaaij‐Arts, Richard J. Sinke, Birgit Sikkema‐Raddatz

    Publicat 2015
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  10. 10
    Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP

    Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP per Konstantinos Nikopoulos, Hanka Venselaar, Rob W.J. Collin, Rosa Riveiro-Álvarez, F. Nienke Boonstra, Johanna M. M. Hooymans, Arijit Mukhopadhyay, Deborah Shears, Marleen van Bers, Ilse J. de Wijs, Anthonie J. van Essen, Rolf H. Sijmons, M. A. D. Tilanus, C. Erik van Nouhuys, Carmen Ayuso, Lies H. Hoefsloot, Frans P.M. Cremers

    Publicat 2010
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  11. 11
    Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome

    Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC Syndrome per Jacopo Celli, Pascal H. G. Duijf, Ben C.J. Hamel, Michael J. Bamshad, Bridget Kramer, Arie Smits, Ruth Newbury‐Ecob, Raoul C. M. Hennekam, Griet Van Buggenhout, Arie van Haeringen, C. Geoffrey Woods, Anthonie J. van Essen, Rob de Waal, Gert Vriend, Daniel A. Haber, Annie Yang, Frank McKeon, Han G. Brunner, Hans van Bokhoven

    Publicat 1999
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  12. 12
    Mutations in MED12 Cause X-Linked Ohdo Syndrome

    Mutations in MED12 Cause X-Linked Ohdo Syndrome per Anneke T. Vulto‐van Silfhout, Bert de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp‐Versteeg, Christian Gilissen, Fangjian Gao, Marloes van Zwam, Cornelis L. Harteveld, Anthonie J. van Essen, Ben C.J. Hamel, Tjitske Kleefstra, Michèl A.A.P. Willemsen, Helger G. Yntema, Hans van Bokhoven, Han G. Brunner, Thomas G. Boyer, Arjan P.M. de Brouwer

    Publicat 2013
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  13. 13
    Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

    Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis) per D Doherty, Melissa A. Parisi, Laura S. Finn, Meral Gunay‐Aygun, Majeed Al-Mateen, Daniel Bates, Carol L. Clericuzio, Hülya Demır, Michael O. Dorschner, Anthonie J. van Essen, William A. Gahl, Mattia Gentile, Nicholas T. Gorden, Abigail Hikida, Dana Knutzen, Hamìt Özyürek, Ian G. Phelps, Phillip Rosenthal, Alain Verloès, Heike Weigand, P. F. Chance, William B. Dobyns, Ian Glass

    Publicat 2009
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  14. 14
    A genome-wide DNA methylation signature for SETD1B-related syndrome

    A genome-wide DNA methylation signature for SETD1B-related syndrome per I. Krzyzewska, Saskia M. Maas, Peter Henneman, K. Lip, A. Venema, Kristin Barañano, Anna Chassevent, Erfan Aref‐Eshghi, Anthonie J. van Essen, Tokiko Fukuda, Hiroko Ikeda, M. Jacquemont, H.-G. Kim, Audrey Labalme, M. E. Suzanne Lewis, Gaëtan Lesca, Irene Madrigal, Sonal Mahida, Naomichi Matsumoto, Raquel Rabionet, Evica Rajcan‐Separovic, Ying Qiao, Bekim Sadiković, Hirotomo Saitsu, David A. Sweetser, Mariëlle Alders, Marcel M.A.M. Mannens

    Publicat 2019
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  15. 15
    <i>Lamin A/C</i> -Related Cardiac Disease

    <i>Lamin A/C</i> -Related Cardiac Disease per Edgar T. Hoorntje, Ilse A. E. Bollen, Daniela Q.C.M. Barge‐Schaapveld, Florence H. van Tienen, Gerard J. te Meerman, Joeri A. Jansweijer, Anthonie J. van Essen, Paul G.A. Volders, Alina A. Constantinescu, Peter C. van den Akker, Karin Y. van Spaendonck‐Zwarts, Rogier A. Oldenburg, Carlo Marcelis, Jasper J. van der Smagt, Eric A. M. Hennekam, Aryan Vink, Marianne Bootsma, Emmelien Aten, Arthur A.M. Wilde, Arthur van den Wijngaard, Jos L. V. Broers, Jan D.H. Jongbloed, Jolanda van der Velden, Maarten P. van den Berg, J. Peter van Tintelen

    Publicat 2017
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  16. 16
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome per Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, D. Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton‐Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Fılız Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenço, Ute Hehr, Eva-Christina Prott, Mélanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, H.-J. Lüdecke, Tim M. Strom

    Publicat 2014
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