Resultados da pesquisa - Ernie M.H.F. Bongers

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  1. 1
    Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

    Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome Por Tom Stiff, Meryem Alagöz, Diana Alcantara, Emily Outwin, Han G. Brunner, Ernie M.H.F. Bongers, Mark O’Driscoll, Penny A. Jeggo

    Publicado em 2013
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  2. 2
    Meier-Gorlin syndrome

    Meier-Gorlin syndrome Por Sonja A. de Munnik, Elisabeth H. Hoefsloot, Jolt Roukema, Jeroen Schoots, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Publicado em 2015
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  3. 3
    A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

    A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome Por Sonja A. de Munnik, Sixto García‐Miñaúr, Alexander Hoischen, Bregje W.M. van Bon, Kym M. Boycott, Jeroen Schoots, Lies H. Hoefsloot, Nine Knoers, Ernie M.H.F. Bongers, Han G. Brunner

    Publicado em 2013
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  4. 4
    A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations

    A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations Por Ernie M.H.F. Bongers, Luke M. Shelton, Susanne Milatz, Sjoerd Verkaart, Anneke Bech, Jeroen Schoots, Marlies Cornelissen, Markus Bleich, Joost G.J. Hoenderop, Jack F.M. Wetzels, Dorien Lugtenberg, Tom Nijenhuis

    Publicado em 2017
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  5. 5
    Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)

    Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) Por Kirsten Y. Renkema, Paul Winyard, Ilya Skovorodkin, Elena Levtchenko, An Hindryckx, Marc Jeanpierre, Stefanie Weber, Rémi Salomon, Corinne Antignac, Seppo Vainio, Andreas Schedl, Franz Schaefer, Nine V.A.M. Knoers, Ernie M.H.F. Bongers

    Publicado em 2011
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  6. 6
    Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case–control study

    Maternal risk factors involved in specific congenital anomalies of the kidney and urinary tract: A case–control study Por Sander Groen in ’t Woud, Kirsten Y. Renkema, Michiel F. Schreuder, Charlotte H. W. Wijers, Loes F.M. van der Zanden, Nine V.A.M. Knoers, Wout Feitz, Ernie M.H.F. Bongers, Nel Roeleveld, Iris A.L.M. van Rooij

    Publicado em 2016
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  7. 7
    Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

    Mutations in the Human TBX4 Gene Cause Small Patella Syndrome Por Ernie M.H.F. Bongers, Pascal H. G. Duijf, Sylvia E. C. van Beersum, Jeroen Schoots, Albert van Kampen, A Burckhardt, Ben C.J. Hamel, F Losan, Lies H. Hoefsloot, Helger G. Yntema, Nine V.A.M. Knoers, Hans van Bokhoven

    Publicado em 2004
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  8. 8
    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

    C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome Por Heleen H. Arts, Ernie M.H.F. Bongers, Dorus A. Mans, Sylvia E. C. van Beersum, M. M. Oud, Emine Bolat, Liesbeth Spruijt, Marlies Cornelissen, Janneke Schuurs-Hoeijmakers, Nicole de Leeuw, Valérie Cormier‐Daire, Han G. Brunner, Nine V.A.M. Knoers, Ronald Roepman

    Publicado em 2011
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  9. 9
    De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

    De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome Por Michael A. Simpson, Charu Deshpande, Dimitra Dafou, Lisenka E.L.M. Vissers, Wesley J. Woollard, Susan Holder, Gabriele Gillessen‐Kaesbach, Ronny Derks, Susan M. White, Ruthy Cohen‐Snuijf, Sarina G. Kant, Lies H. Hoefsloot, William Reardon, Han G. Brunner, Ernie M.H.F. Bongers, Richard C. Trembath

    Publicado em 2012
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  10. 10
    <i>TBX4</i>mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

    <i>TBX4</i>mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension Por Wilhelmina S. Kerstjens‐Frederikse, Ernie M.H.F. Bongers, Marcus T.R. Roofthooft, Edward M. Leter, Johannes M. Douwes, Arie P.J. van Dijk, Anton Vonk Noordegraaf, Krista K. van Dijk-Bos, Lies H. Hoefsloot, Elke S. Hoendermis, Gilles Thomas, Birgit Sikkema‐Raddatz, Robert M.W. Hofstra, Rolf M.F. Berger

    Publicado em 2013
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  11. 11
    Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

    Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita Por Marjolijn C.J. Jongmans, Eugène T.P. Verwiel, Yvonne F. Heijdra, Tom Vulliamy, Eveline J. Kamping, Jayne Y. Hehir‐Kwa, Ernie M.H.F. Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N. van Leeuwen, Koen L.I. van Gassen, Ad Geurts van Kessel, Inderjeet Dokal, Nicoline Hoogerbrugge, Marjolijn J. L. Ligtenberg, Roland P. Kuiper

    Publicado em 2012
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  12. 12
    Common variants in DGKK are strongly associated with risk of hypospadias

    Common variants in DGKK are strongly associated with risk of hypospadias Por Loes F.M. van der Zanden, Iris A.L.M. van Rooij, Wout Feitz, Jo Knight, A. Rogier T. Donders, Kirsten Y. Renkema, Ernie M.H.F. Bongers, Sita H. Vermeulen, Lambertus A. Kiemeney, Joris A. Veltman, Alejandro Arias Vásquez, Xu‐Feng Zhang, Ellen Markljung, Liang Qiao, Laurence S. Baskin, Agneta Nordenskjöld, Nel Roeleveld, Barbara Franke, Nine V.A.M. Knoers

    Publicado em 2010
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  13. 13
    <i>TRIO</i>loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function

    <i>TRIO</i>loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function Por Wei Ba, Yan Yan, Margot R.F. Reijnders, Janneke Schuurs-Hoeijmakers, Ilse Feenstra, Ernie M.H.F. Bongers, Daniëlle G.M. Bosch, Nicole de Leeuw, Rolph Pfundt, Christian Gilissen, Petra F. de Vries, Joris A. Veltman, Alexander Hoischen, Heather C. Mefford, Evan E. Eichler, Lisenka E.L.M. Vissers, Nael Nadif Kasri, Bert B.A. de Vries

    Publicado em 2015
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  14. 14
    Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma

    Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma Por Laurence Pierrache, Adva Kimchi, Rinki Ratnapriya, Lisa Roberts, Galuh Astuti, Alexey Obolensky, Avigail Beryozkin, Martha J. H. Tjon-Fo-Sang, J. Schuil, Caroline C. W. Klaver, Ernie M.H.F. Bongers, Lonneke Haer‐Wigman, Nicoline Schalij, Martijn H. Breuning, Gratia M. Fischer, Eyal Banin, Raj Ramesar, Anand Swaroop, L. Ingeborgh van den Born, Dror Sharon, Frans P.M. Cremers

    Publicado em 2017
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  15. 15
    Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

    Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy Por Ernie M.H.F. Bongers, F.T.M. Huysmans, Elena Levtchenko, Jacky W. de Rooy, Johan G. Blickman, R.J.C. Admiraal, P.L.M. Huygen, J.R.M. Cruysberg, Pauline A M P Toolens, Judith B. Prins, Paul F. M. Krabbe, George F. Borm, Jeroen Schoots, Hans van Bokhoven, Angela M F van Remortele, Lies H. Hoefsloot, Albert van Kampen, Nine V.A.M. Knoers

    Publicado em 2005
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  16. 16
    Mutations in the pre-replication complex cause Meier-Gorlin syndrome

    Mutations in the pre-replication complex cause Meier-Gorlin syndrome Por Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch, Stephen Brown, Jeroen Schoots, Margaret E Harley, Salim Aftimos, Jumana Y. Al‐Aama, Michael B. Bober, Paul A. Brown, Hans van Bokhoven, John Dean, Alaa Edrees, Murray Feingold, Alan Fryer, Lies H. Hoefsloot, Nikolaus Kau, Nine Knoers, J. M. MacKenzie, John M. Opitz, Pierre Sarda, Alison Ross, I. Karen Temple, Annick Toutain, Carol A. Wise, Michael Wright, Andrew P. Jackson

    Publicado em 2011
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  17. 17
    Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families

    Renal cancer and pneumothorax risk in Birt–Hogg–Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families Por Arjan C. Houweling, Lieke Gijezen, Marianne A. Jonker, Martijn B. A. van Doorn, Reinhard Oldenburg, Karin Y. van Spaendonck‐Zwarts, Edward M. Leter, T. A. van Os, Nicole C.T. van Grieken, Elisabeth H. Jaspars, M. M. de Jong, Ernie M.H.F. Bongers, Paul C. Johannesma, Pieter E. Postmus, R. Jeroen A. van Moorselaar, J-Htm van Waesberghe, Theo M. Starink, Maurice A. M. Van Steensel, Gilles Thomas, Fred H. Menko

    Publicado em 2011
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  18. 18
    <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophila</i>

    <i>GATAD2B</i>loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in<i>Drosophi... Por Marjolein H. Willemsen, Bonnie Nijhof, Michaela Fencková, Willy M. Nillesen, Ernie M.H.F. Bongers, Anna Castells‐Nobau, Lenke Asztalos, Erika Viràgh, Bregje W.M. van Bon, Emre Tezel, Joris A. Veltman, Han G. Brunner, Bert B.A. de Vries, Joep de Ligt, Helger G. Yntema, Hans van Bokhoven, Bertrand Isidor, Cédric Le Caignec, Elsa Lorino, Zoltán Asztalos, David A. Koolen, Lisenka E.L.M. Vissers, Annette Schenck, Tjitske Kleefstra

    Publicado em 2013
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  19. 19
    Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

    Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability Por Stefan H. Lelieveld, Margot R.F. Reijnders, Rolph Pfundt, Helger G. Yntema, Erik‐Jan Kamsteeg, Petra de Vries, Bert B.A. de Vries, Marjolein H. Willemsen, Tjitske Kleefstra, Katharina Löhner, Maaike Vreeburg, Servi J.C. Stevens, Ineke van der Burgt, Ernie M.H.F. Bongers, Alexander P.A. Stegmann, Patrick Rump, Tuula Rinne, Marcel Nelen, Joris A. Veltman, Lisenka E.L.M. Vissers, Han G. Brunner, Christian Gilissen

    Publicado em 2016
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  20. 20
    Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

    Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm Por Mark E. Lindsay, Dorien Schepers, Nikhita Bolar, Jefferson J. Doyle, Elena Gallo, Justyna Fert‐Bober, Marlies Kempers, Elliot K. Fishman, Yi‐Chun Chen, Loretha Myers, Djahita Bjeda, Gretchen Oswald, Abdallah F. Elias, Howard P. Levy, Britt-Marie Anderlid, Margaret Yang, Ernie M.H.F. Bongers, Janneke Timmermans, Alan C. Braverman, Natalie Canham, Geert Mortier, Han G. Brunner, Peter H. Byers, Jennifer E. Van Eyk, Lut Van Laer, Harry C. Dietz, Bart Loeys

    Publicado em 2012
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