Canlyniadau Chwilio - Peter C. van den Akker

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  1. 1
    Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy

    Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy gan Olivier Bornert, Tobias Kühl, Jeroen Bremer, Peter C. van den Akker, Anna M.G. Pasmooij, Alexander Nyström

    Cyhoeddwyd 2016
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  2. 2
    Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa

    Antisense Oligonucleotide-mediated Exon Skipping as a Systemic Therapeutic Approach for Recessive Dystrophic Epidermolysis Bullosa gan Jeroen Bremer, Olivier Bornert, Alexander Nyström, Antoni Gostyński, Marcel F. Jonkman, Annemieke Aartsma‐Rus, Peter C. van den Akker, Anna M.G. Pasmooij

    Cyhoeddwyd 2016
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  3. 3
    Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

    Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed? gan Rosalie Baardman, V.K. Yenamandra, José C. Duipmans, Anna M.G. Pasmooij, Marcel F. Jonkman, Peter C. van den Akker, Maria C. Bolling

    Cyhoeddwyd 2020
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  4. 4
    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? gan 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

    Cyhoeddwyd 2011
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  5. 5
    Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

    Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa gan Cristina Has, L. Liu, Maria C. Bolling, A. Charlesworth, May El Hachem, M.J. Escámez, Ignacia Fuentes, S. Büchel, Ravi Hiremagalore, G. Pohla‐Gubo, Peter C. van den Akker, Katarzyna Wertheim‐Tysarowska, Giovanna Zambruno

    Cyhoeddwyd 2019
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  6. 6
    Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa

    Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa gan Dimitra Kiritsi, Marta García, Renske Brander, Cristina Has, Rowdy Meijer, M.J. Escámez, J. Kohlhase, Peter C. van den Akker, Hans Scheffer, Marcel F. Jonkman, Marcela Del Río, Leena Bruckner‐Tuderman, Anna M.G. Pasmooij

    Cyhoeddwyd 2014
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  7. 7
    An Overview and Online Registry of Microvillus Inclusion Disease Patients and their<i>MYO5B</i>Mutations

    An Overview and Online Registry of Microvillus Inclusion Disease Patients and their<i>MYO5B</i>Mutations gan K. Joeri van der Velde, Herschel S. Dhekne, Morris A. Swertz, Serena Sirigu, Virginie Ropars, Petra C. Vinke, Trebor Rengaw, Peter C. van den Akker, Edmond H.H.M. Rings, Anne Houdusse, Sven C.D. van IJzendoorn

    Cyhoeddwyd 2013
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  8. 8
    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 gan 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

    Cyhoeddwyd 2011
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  9. 9
    Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy

    Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy gan Sara Brown, Yuka Asai, Heather J. Cordell, Linda Campbell, Yiwei Zhao, Haihui Liao, Kate Northstone, John Henderson, Reza Alizadehfar, Moshe Ben‐Shoshan, Kenneth Morgan, Graham Roberts, L. J. Masthoff, Suzanne G.M.A. Pasmans, Peter C. van den Akker, Cisca Wijmenga, Jonathan O’B Hourihane, Colin N. A. Palmer, Gideon Lack, Ann E. Clarke, Peter Hull, Alan D. Irvine, W.H. Irwin McLean

    Cyhoeddwyd 2011
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  10. 10
    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

    WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations gan Katrin Friedrich, Lin Lee, Dru F. Leistritz, Gudrun Nürnberg, Bidisha Saha, Fuki M. Hisama, Daniel Eyman, Davor Lessel, Peter Nürnberg, Chumei Li, María José García-F-Villalta, Carolien M. Kets, Joerg Schmidtke, Vítor Tedim Cruz, Peter C. van den Akker, Joseph Boak, Dincy Peter, Goli Compoginis, Kıvanç Çefle, Şükrü Öztürk, Norberto López, Theda Wessel, Martin Poot, P.F. Ippel, Birgit Groff-Kellermann, Holger Hoehn, George M. Martin, Christian Kubisch, Junko Oshima

    Cyhoeddwyd 2010
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  11. 11
    <i>Lamin A/C</i> -Related Cardiac Disease

    <i>Lamin A/C</i> -Related Cardiac Disease gan 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

    Cyhoeddwyd 2017
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  12. 12
    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 gan 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

    Cyhoeddwyd 2019
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