Výsledky vyhledávání - Bert van der Zwaag

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  1. 1
    The Complexity of Genotype‐Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients

    The Complexity of Genotype‐Phenotype Correlations in Hereditary Spherocytosis: A Cohort of 95 Patients Autor Annelies J. van Vuren, Bert van der Zwaag, Rick Huisjes, Nathalie S.M. Lak, Marc Bierings, Egbert J.A. Gerritsen, Eduard J. van Beers, Marije Bartels, Richard van Wijk

    Vydáno 2019
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  2. 2
    Joubert syndrome: genotyping a Northern European patient cohort

    Joubert syndrome: genotyping a Northern European patient cohort Autor Hester Y. Kroes, Glen R. Monroe, Bert van der Zwaag, Karen Duran, Carolien G. F. de Kovel, Mark J. van Roosmalen, Magdaléna Harakaľová, Isaäc J. Nijman, Wigard P. Kloosterman, Rachel H. Giles, Nine Knoers, Gijs van Haaften

    Vydáno 2015
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  3. 3
    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories

    Best Practice Guidelines for the Use of Next-Generation Sequencing Applications in Genome Diagnostics: A National Collaborative Study of Dutch Genome Diagnostic Laboratories Autor Marjan M. Weiss, Bert van der Zwaag, Jan D.H. Jongbloed, Maartje J. Vogel, Hennie T. Brüggenwirth, Ronald H. Lekanne Deprez, Olaf R.F. Mook, Claudia Ruivenkamp, Marjon A. van Slegtenhorst, Arthur van den Wijngaard, Quinten Waisfisz, Marcel Nelen, Nienke van der Stoep

    Vydáno 2013
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  4. 4
    The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

    The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1 Autor Erwin van Wijk, Bert van der Zwaag, Theo Peters, Ulrike Zimmermann, Heleen te Brinke, Ferry F.J. Kersten, Tina Märker, Elena Aller, Lies H. Hoefsloot, Cor W. R. J. Cremers, Frans P.M. Cremers, Uwe Wolfrum, Marlies Knipper, Ronald Roepman, Hannie Kremer

    Vydáno 2006
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  5. 5
    Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center

    Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center Autor Lotte Kleinendorst, Ozair Abawi, Bibian van der Voorn, Mieke H. T. M. Jongejan, Annelies E. Brandsma, Jenny A. Visser, Elisabeth F. C. van Rossum, Bert van der Zwaag, Mariëlle Alders, Elles M. J. Boon, Mieke M. van Haelst, Erica L T van den Akker

    Vydáno 2020
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  6. 6
    Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

    Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome Autor Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, Jacopo Celli, Ellen van Beusekom, Bert van der Zwaag, Hülya Kayserili, Luciano Merlini, David Chitayat, William B. Dobyns, Bru Cormand, Ana-Elina Lehesjoki, Jesús Cruces, Thomas Voït, Christopher A. Walsh, Hans van Bokhoven, Han G. Brunner

    Vydáno 2002
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  7. 7
    Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

    Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome Autor Nayia Nicolaou, Coert Margadant, Sietske H. Kevelam, Marc R. Liliën, Michiel J.S. Oosterveld, Maaike Kreft, Albertien M. van Eerde, Rolph Pfundt, Paulien A. Terhal, Bert van der Zwaag, Peter G. J. Nikkels, Norman Sachs, Roel Goldschmeding, Nine V.A.M. Knoers, Kirsten Y. Renkema, Arnoud Sonnenberg

    Vydáno 2012
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  8. 8
    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

    Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism Autor Emma van Daalen, Chantal Kemner, Nienke E. Verbeek, Bert van der Zwaag, Trijnie Dijkhuizen, Patrick Rump, Renske H. Houben, Ruben van ‘t Slot, Maretha Jonge, Wouter Staal, Frits A. Beemer, Jacob Vorstman, J. Peter H. Burbach, Hans Kristian Ploos van Amstel, Ron Hochstenbach, Eva H. Brilstra, Martin Poot

    Vydáno 2011
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  9. 9
    Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

    Heterozygous<i>KIDINS220/ARMS</i>nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity Autor Dragana Josifova, Glen R. Monroe, Federico Tessadori, Esther de Graaff, Bert van der Zwaag, Sarju Mehta, Magdaléna Harakaľová, Karen Duran, Sanne M. C. Savelberg, Isaäc J. Nijman, Heinz Jungbluth, Casper C. Hoogenraad, Jeroen Bakkers, Nine Knoers, Helen V. Firth, Philip L. Beales, Gijs van Haaften, Mieke M. van Haelst

    Vydáno 2016
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  10. 10
    A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder

    A co‐segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder Autor Bert van der Zwaag, Wouter Staal, Ron Hochstenbach, Martin Poot, Henk A. Spierenburg, Maretha Jonge, Nienke E. Verbeek, Ruben van ‘t Slot, Michael A. van Es, Frank J. T. Staal, Christine M. Freitag, Jacobine E. Buizer‐Voskamp, Marcel Nelen, Leonard H. van den Berg, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach

    Vydáno 2009
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  11. 11
    Genetic obesity: next-generation sequencing results of 1230 patients with obesity

    Genetic obesity: next-generation sequencing results of 1230 patients with obesity Autor Lotte Kleinendorst, Maarten P.G. Massink, Mellody I. Cooiman, Mesut Savas, Olga H. van der Baan‐Slootweg, Roosje J Roelants, Ignace C M Janssen, Hanne J. Meijers-Heijboer, Nine Knoers, Hans Kristian Ploos van Amstel, Elisabeth F. C. van Rossum, Erica L T van den Akker, Gijs van Haaften, Bert van der Zwaag, Mieke M. van Haelst

    Vydáno 2018
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  12. 12
    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome Autor Zafar Iqbal, Pilar Cejudo–Martín, Arjan de Brouwer, Bert van der Zwaag, Pilar Ruiz‐Lozano, Maria Cecilia Scimia, James D. Lindsey, Robert N. Weinreb, Beate Albrecht, André Mégarbané, Yasemin Alanay, Ziva Ben‐Neriah, Mariangela Amenduni, Rosangela Artuso, Joris A. Veltman, Ellen van Beusekom, Astrid Oudakker, José Luís Millán, Raoul C. M. Hennekam, Ben C.J. Hamel, Sara A. Courtneidge, Hans van Bokhoven

    Vydáno 2010
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  13. 13
    Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

    Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans Autor Zubair M. Ahmed, Saber Masmoudi, Ersan Kalay, Inna A. Belyantseva, Mohamed Ali Mosrati, Rob W.J. Collin, Saima Riazuddin, Mounira Hmani‐Aifa, Hanka Venselaar, Mayya N Kawar, Abdelaziz Tlili, Bert van der Zwaag, Shahid Y. Khan, Leila Ayadi, Sheikh Riazuddin, Robert J. Morell, Andrew J. Griffith, Ilhem Charfedine, Refik Çaylan, Jaap Oostrik, Ahmet Karagüzel, Abdelmonem Ghorbel, Sheikh Riazuddin, Thomas B. Friedman, Hammadi Ayadi, Hannie Kremer

    Vydáno 2008
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  14. 14
    NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD

    NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD Autor Rozemarijn Snoek, Jessica van Setten, Brendan J. Keating, Ajay K. Israni, Pamala A. Jacobson, William S. Oetting, Arthur J. Matas, Roslyn B. Mannon, Zhongyang Zhang, Weijia Zhang, Ke Hao, Barbara Murphy, Roman Reindl‐Schwaighofer, Andreas Heinzl, Rainer Oberbauer, Ondřej Viklický, Peter J. Conlon, Caragh P. Stapleton, Stephan J. L. Bakker, Harold Snieder, Edith Peters, Bert van der Zwaag, Nine Knoers, Martin H. de Borst, Albertien M. van Eerde

    Vydáno 2018
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  15. 15
    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism

    Gene-Network Analysis Identifies Susceptibility Genes Related to Glycobiology in Autism Autor Bert van der Zwaag, Lude Franke, Martin Poot, Ron Hochstenbach, Henk A. Spierenburg, Jacob Vorstman, Emma van Daalen, Maretha Jonge, Nienke E. Verbeek, Eva H. Brilstra, Ruben van ‘t Slot, Roel A. Ophoff, Michael A. van Es, Hylke M. Blauw, Jan H. Veldink, Jacobine E. Buizer‐Voskamp, Frits A. Beemer, Leonard H. van den Berg, Cisca Wijmenga, Hans Kristian Ploos van Amstel, Hermán van Engeland, J. Peter H. Burbach, Wouter Staal

    Vydáno 2009
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  16. 16
    Monocarboxylate Transporter 1 Deficiency and Ketone Utilization

    Monocarboxylate Transporter 1 Deficiency and Ketone Utilization Autor Peter M. van Hasselt, Sacha Ferdinandusse, Glen R. Monroe, Jos P.N. Ruiter, Marjolein Turkenburg, Maartje J. Geerlings, Karen Duran, Magdaléna Harakaľová, Bert van der Zwaag, Ardeshir A. Monavari, İlyas Okur, Mark Sharrard, Maureen Cleary, N.H. O’Connell, Valerie Walker, M. Estela Rubio‐Gozalbo, Maaike C. de Vries, Gepke Visser, Roderick H.J. Houwen, Jasper J. van der Smagt, Nanda M. Verhoeven‐Duif, Ronald J. A. Wanders, Gijs van Haaften

    Vydáno 2014
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  17. 17
    Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35

    Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35 Autor Rob W.J. Collin, Ersan Kalay, Muhammad Tariq, Theo Peters, Bert van der Zwaag, Hanka Venselaar, Jaap Oostrik, Kwanghyuk Lee, Zubair M. Ahmed, Refik Çaylan, Yun Li, Henk A. Spierenburg, Erol Eyüpoğlu, Angelien Heister, Saima Riazuddin, Elif Bahat, Muhammad Ansar, Selçuk Arslan, Bernd Wollnik, Han G. Brunner, Cor W. R. J. Cremers, Ahmet Karagüzel, Wasim Ahmad, Frans P.M. Cremers, Gert Vriend, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, Hannie Kremer

    Vydáno 2008
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  18. 18
    Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT

    Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT Autor Nayia Nicolaou, Sara L. Pulit, Isaäc J. Nijman, Glen R. Monroe, Wout Feitz, Michiel F. Schreuder, Albertien M. van Eerde, Tom P.V.M. de Jong, Jacques C. Giltay, Bert van der Zwaag, Marlies R. Havenith, Susan Zwakenberg, Loes F.M. van der Zanden, Geert Poelmans, Marlies Cornelissen, Marc R. Liliën, Barbara Franke, Nel Roeleveld, Iris A.L.M. van Rooij, Edwin Cuppen, Ernie M.H.F. Bongers, Rachel H. Giles, Nine Knoers, Kirsten Y. Renkema

    Vydáno 2015
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  19. 19
    Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

    Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects Autor Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs W.E. Santen, Isaäc J. Nijman, Derek Butler, Godelieve R.F. Claes, Adalberto Costessi, Wim Dorlijn, Winfried van Eyndhoven, Dicky Halley, Mirjam C. G. N. van den Hout, Steven van Hove, Lennart Johansson, Jan D.H. Jongbloed, Rick Kamps, Christel Kockx, Bart de Koning, Marjolein Kriek, Ronald Lekanne dit Deprez, Hans Lunstroo, Marcel M.A.M. Mannens, Olaf R.F. Mook, Marcel Nelen, M.C. Ploem, Marco Rijnen, Jasper J. Saris, Richard J. Sinke, Erik A. Sistermans, Marjon van Slegtenhorst, Frank Sleutels, Nienke van der Stoep, Marianne van Tienhoven, Martijn Vermaat, Maartje J. Vogel, Quinten Waisfisz, Janneke Weiss, Arthur van den Wijngaard, Wilbert van Workum, Helger Ijntema, Bert van der Zwaag, Wilfred F. J. van IJcken, Johan T. den Dunnen, Joris A. Veltman, Raoul C. M. Hennekam, Edwin Cuppen

    Vydáno 2015
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  20. 20
    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications

    Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications Autor Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne

    Vydáno 2021
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