Search Results - Hanka Venselaar

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  1. 1
    Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics

    Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics by Laurens Wiel, Hanka Venselaar, Joris A. Veltman, Gert Vriend, Christian Gilissen

    Published 2017
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  2. 2
    Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

    Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces by Hanka Venselaar, Tim AH te Beek, Remko Kuipers, Maarten L. Hekkelman, Gert Vriend

    Published 2010
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  3. 3
    The alpha-kinase family: an exceptional branch on the protein kinase tree

    The alpha-kinase family: an exceptional branch on the protein kinase tree by Jeroen Middelbeek, Kristopher Clark, Hanka Venselaar, Martijn A. Huynen, Frank N. van Leeuwen

    Published 2009
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  4. 4
    Retinal-Based Proton Pumping in the Near Infrared

    Retinal-Based Proton Pumping in the Near Infrared by Srividya Ganapathy, Hanka Venselaar, Que Chen, Huub J. M. de Groot, Klaas J. Hellingwerf, Willem J. de Grip

    Published 2017
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  5. 5
    Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features

    Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features by L. Tom Vlasveld, Roel Janssen, Edouard Bardou‐Jacquet, Hanka Venselaar, Houda Hamdi‐Rozé, Hal Drakesmith, Dorine W. Swinkels

    Published 2019
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  6. 6
    Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

    Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome by Zubair M. Ahmed, Saima Riazuddin, Sandar Aye, Rana A. Ali, Hanka Venselaar, Saima Anwar, Polina P. Belyantseva, Muhammad Qasim, Sheikh Riazuddin, Thomas B. Friedman

    Published 2008
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  7. 7
    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

    Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes by Stefan H. Lelieveld, Laurens Wiel, Hanka Venselaar, Rolph Pfundt, Gerrit Vriend, Joris A. Veltman, Han G. Brunner, Lisenka E.L.M. Vissers, Christian Gilissen

    Published 2017
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  8. 8
    Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive

    Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive by Fabian Baertling, Fathiya Al-Murshedi, Laura Sánchez‐Caballero, Khalfan S. Al-Senaidi, Niranjan Joshi, Hanka Venselaar, Mariël A. van den Brand, Leo Nijtmans, Richard J. Rodenburg

    Published 2017
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  9. 9
    Membrane Topology and Intracellular Processing of Cyclin M2 (CNNM2)

    Membrane Topology and Intracellular Processing of Cyclin M2 (CNNM2) by Jeroen H. F. de Baaij, Marchel Stuiver, Iwan C. Meij, Sergio Laínez, Kathrin Kopplin, Hanka Venselaar, Dominik Müller, René J.M. Bindels, Joost G.J. Hoenderop

    Published 2012
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  10. 10
    Whole-exome sequencing reveals <i>LRP5</i> mutations and canonical Wnt signaling associated with hepatic cystogenesis

    Whole-exome sequencing reveals <i>LRP5</i> mutations and canonical Wnt signaling associated with hepatic cystogenesis by Wybrich R Cnossen, René H. M. te Morsche, Alexander Hoischen, Christian Gilissen, Melissa Chrispijn, Hanka Venselaar, Mehdi Soufi, Carsten Bergmann, Joris A. Veltman, Joost P.H. Drenth

    Published 2014
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  11. 11
    SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

    SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors by G. Herma Renkema, Saskia B. Wortmann, Roel Smeets, Hanka Venselaar, Marion Antoine, Gepke Visser, Tawfeg Ben‐Omran, Lambert P. van den Heuvel, Henri Timmers, Jan Smeitink, Richard J. Rodenburg

    Published 2014
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  12. 12
    Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors

    Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors by Cathryn Poulton, Rachel Schot, Sima Kheradmand Kia, Marta Jones, Frans W. Verheijen, Hanka Venselaar, Marie‐Claire Y. de Wit, Esther de Graaff, Aida M. Bertoli‐Avella, Grazia M.S. Mancini

    Published 2011
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  13. 13
    Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping:<i>in vitro</i>proof of concept

    Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping:<i>in vitro</i>proof of concept by Julie W. Rutten, Hans G. Dauwerse, Dorien J.M. Peters, Andrew Goldfarb, Hanka Venselaar, Christof Haffner, Gert‐Jan B. van Ommen, Annemieke Aartsma‐Rus, Saskia A.J. Lesnik Oberstein

    Published 2016
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  14. 14
    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

    <i>De novo <scp>WNT5A</scp></i>‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype by Maian Roifman, Carlo Marcelis, Tara Paton, Christian R. Marshall, Rachel Silver, Jamie L. Lohr, Helger G. Yntema, Hanka Venselaar, Hülya Kayserili, Bregje W.M. van Bon, Gareth Seaward, Han G. Brunner, David Chitayat

    Published 2014
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  15. 15
    Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting

    Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting by Silvia Ferrè, Jeroen H. F. de Baaij, Patrick Ferreira, Roger Germann, Johannis B.C. de Klerk, Marla Lavrijsen, Femke van Zeeland, Hanka Venselaar, Leo A. J. Kluijtmans, Joost G.J. Hoenderop, René J.M. Bindels

    Published 2013
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  16. 16
    Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis

    Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis by Diana C. Rosentul, Corine Delsing, Martin Jaeger, Theo S. Plantinga, Marije Oosting, Irene Costantini, Hanka Venselaar, Leo A. B. Joosten, J.W.M. van der Meer, B. Dupont, Bart Jan Kullberg, Jack D. Sobel, Mihai G. Netea

    Published 2014
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  17. 17
    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene

    Terminal Osseous Dysplasia Is Caused by a Single Recurrent Mutation in the FLNA Gene by Yu Sun, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P. Robertson, Anna Baroncini, Brunella Franco, Lina Basel‐Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyürek, Johan T. den Dunnen, Martijn H. Breuning

    Published 2010
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  18. 18
    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

    Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP by Lisenka E.L.M. Vissers, Ekkehart Lausch, Sheila Unger, Belinda Campos‐Xavier, Christian Gilissen, Antonio Rossi, Marisol del Rosario, Hanka Venselaar, Ute Knoll, Sheela Nampoothiri, Mohandas Nair, Jürgen W. Spranger, Han G. Brunner, Luisa Bonafé, Joris A. Veltman, Bernhard Zabel, Andrea Superti‐Furga

    Published 2011
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  19. 19
    Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

    Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations by N.J.D. Weegerink, Margit Schraders, Jaap Oostrik, P.L.M. Huygen, Tim M. Strom, Susanne Granneman, Ronald J. E. Pennings, Hanka Venselaar, Lies H. Hoefsloot, Mariet Elting, Cor W. R. J. Cremers, R.J.C. Admiraal, Hannie Kremer, Henricus P. M. Kunst

    Published 2011
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  20. 20
    <i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections

    <i>SMAD2</i>Mutations Are Associated with Arterial Aneurysms and Dissections by Dimitra Micha, Dongchuan Guo, Yvonne Hilhorst‐Hofstee, Fop van Kooten, Dian Atmaja, Eline Overwater, Ferdy Kurniawan Cayami, Ellen S. Regalado, R. Van Uffelen, Hanka Venselaar, Sultana MH Faradz, Gerrit Vriend, Marjan M. Weiss, Erik A. Sistermans, Alessandra Maugeri, Dianna M. Milewicz, Gerard Pals, Fleur S van Dijk

    Published 2015
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