Výsledky vyhledávání - Johanna M. van Hagen

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  1. 1
    Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling

    Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling Autor Mark O’Driscoll, William B. Dobyns, Johanna M. van Hagen, Penny A. Jeggo

    Vydáno 2007
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  2. 2
    Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy

    Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy Autor Casey L. Moulson, Gloriosa Go, Jennifer M. Gardner, Allard C. van der Wal, J.H. Sillevis Smitt, Johanna M. van Hagen, Jeffrey H. Miner

    Vydáno 2005
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  3. 3
    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

    Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene Autor Ronald H. Lekanne Deprez, J J Muurling-Vlietman, J Hruda, Marieke J.H. Baars, Liliane C. D. Wijnaendts, Irene Stolte‐Dijkstra, Mariëlle Alders, Johanna M. van Hagen

    Vydáno 2006
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  4. 4
    Birth prevalence of Robin sequence in the Netherlands from 2000‐2010: a retrospective population‐based study in a large Dutch cohort and review of the literature

    Birth prevalence of Robin sequence in the Netherlands from 2000‐2010: a retrospective population‐based study in a large Dutch cohort and review of the literature Autor Emma C. Paes, Daan P. F. van Nunen, Hanneke Basart, J. Peter W. Don Griot, Johanna M. van Hagen, Chantal M.A.M. van der Horst, Marie‐José H. van den Boogaard, Corstiaan C. Breugem

    Vydáno 2015
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  5. 5
    Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

    Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth Autor Nicole Revençu, Laurence M. Boon, A. Dompmartin, Paul N.M.A. Rieu, W Busch, Josée Dubois, Francesca Forzano, Johanna M. van Hagen, Sara Halbach, A. Kuechler, A.M.A. Lachmeijer, Jyrki Lähde, Laura Russell, K. O. J. Simola, John B. Mulliken, Miikka Vikkula

    Vydáno 2013
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  6. 6
    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

    <i>CACNA1I</i> gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders Autor Yousra El Ghaleb, Pauline E. Schneeberger, Monica L. Fernández‐Quintero, Stefanie M. Geisler, Simone Pelizzari, Abeltje M. Polstra, Johanna M. van Hagen, Jonas Denecke, Marta Campiglio, Klaus R. Liedl, Cathy A. Stevens, Richard Person, Stefan Rentas, Eric D. Marsh, Laura K. Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E. Flucher

    Vydáno 2021
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  7. 7
    Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

    Biallelic <i>BUB1</i> mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation Autor Sara Carvalhal, Ingrid Bader, Martin A. Rooimans, Anneke B. Oostra, Jesper A. Balk, René G. Feichtinger, Christine Beichler, Michael R. Speicher, Johanna M. van Hagen, Quinten Waisfisz, Mieke M. van Haelst, Martijn Bruijn, Alexandra Tavares, Johannes A. Mayr, Rob M.F. Wolthuis, Raquel A. Oliveira, Job de Lange

    Vydáno 2022
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  8. 8
    CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

    CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene Autor M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk, Lisenka E.L.M. Vissers, Annette F. Baas, Livia Kapusta, Johanna M. van Hagen, D Donnai, Thomy de Ravel, Joris A. Veltman, Ad Geurts van Kessel, Bert B.A. de Vries, Han G. Brunner, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij

    Vydáno 2005
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  9. 9
    High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

    High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome Autor Leanne de Kock, Yu Chang Wang, Timothée Revil, Dunarel Badescu, Bárbara Rivera, Nelly Sabbaghian, Mona K. Wu, Evan Weber, Claudio Sandoval, Saskia Hopman, Johannes H. M. Merks, Johanna M. van Hagen, Antonia H. Bouts, David A. Plager, Aparna Ramasubramanian, Linus Forsmark, Kristine L Doyle, Tonja Toler, Janine Callahan, Charlotte Engelenberg, Dorothée Bouron-Dal Soglio, John R. Priest, Jiannis Ragoussis, William D. Foulkes

    Vydáno 2015
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  10. 10
    Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

    Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders Autor Eline Overwater, Luisa Marsili, Marieke J.H. Baars, Annette F. Baas, Irma van de Beek, Eelco Dulfer, Johanna M. van Hagen, Yvonne Hilhorst‐Hofstee, Marlies Kempers, Ingrid P.C. Krapels, Leonie A. Menke, Judith M.A. Verhagen, Kak Khee Yeung, Petra Zwijnenburg, Maarten Groenink, Peter van Rijn, Marjan M. Weiss, Els Voorhoeve, J. Peter van Tintelen, Arjan C. Houweling, Alessandra Maugeri

    Vydáno 2018
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  11. 11
    Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

    Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype Autor Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Romana Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, M. Cristina Digilio, Maria Luigia Cavaliere, Johanna M. van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni Battista Ferrero, Laura Mazzanti, Isabella Screpanti, Helger G. Yntema, Willy M. Nillesen, Ravi Savarirayan, Martin Zenker, Bruno Dallapiccola, Bruce D. Gelb, Marco Tartaglia

    Vydáno 2010
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  12. 12
    Diagnostic exome sequencing in 266 Dutch patients with visual impairment

    Diagnostic exome sequencing in 266 Dutch patients with visual impairment Autor Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt, L. Ingeborgh van den Born, Caroline C. W. Klaver, Joanne Verheij, Carel B. Hoyng, Martijn H. Breuning, Camiel J. F. Boon, Anneke J.A. Kievit, Virginie J. M. Verhoeven, Jan WR Pott, Suzanne C.E.H. Sallevelt, Johanna M. van Hagen, Astrid S. Plomp, Hester Y. Kroes, Stefan H. Lelieveld, Jayne Y. Hehir‐Kwa, Steven Castelein, Marcel Nelen, Hans Scheffer, Dorien Lugtenberg, Frans P.M. Cremers, Lies H. Hoefsloot, Helger G. Yntema

    Vydáno 2017
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  13. 13
    <i>SYNGAP1</i> encephalopathy

    <i>SYNGAP1</i> encephalopathy Autor Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle M. Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard F. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, Georg-Christoph Korenke, Conny M.A. van Ravenswaaij‐Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer

    Vydáno 2018
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  14. 14
    Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

    Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome Autor Shereen G. Ghosh, Kerstin Becker, He Huang, Tracy Dixon‐Salazar, Guoliang Chai, Vincenzo Salpietro, Lihadh Al‐Gazali, Quinten Waisfisz, Haicui Wang, Keith K. Vaux, Valentina Stanley, Andreea Manole, Uğur Akpulat, Marjan M. Weiss, Stéphanie Efthymiou, Michael G. Hanna, Carlo Minetti, Pasquale Striano, Livia Pisciotta, Elisa De Grandis, Janine Altmüller, Lisa Weixler, Peter Nürnberg, Hölger Thiele, Uluç Yiş, Tuncay Derya Okur, Ayşe Polat, Nafise Amiri, Mohammad Doosti, Ehsan Ghayoor Karimani, Mehran Beiraghi Toosi, Gabriel Haddad, Mert Karakaya, Brunhilde Wirth, Johanna M. van Hagen, Nicole I. Wolf, Reza Maroofian, Henry Houlden, Sebahattin Çırak, Joseph G. Gleeson

    Vydáno 2018
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  15. 15
    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability

    Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability Autor Lin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, Justine Rousseau, Isabelle Thiffault, Rhonda E. Schnur, Catherine Breen, Renske Oegema, Marjan M. Weiss, Quinten Waisfisz, Sara Welner, Helen Kingston, Jordan A. Hills, Elles M. J. Boon, Lina Basel‐Salmon, Osnat Konen, Hadassa Goldberg‐Stern, Lily Bazak, Shay Tzur, Jianliang Jin, Xiuli Bi, Michael Bruccoleri, Kirsty McWalter, Megan T. Cho, Maria I. Scarano, G. Bradley Schaefer, Susan Sklower Brooks, Susan Hughes, Koen L.I. van Gassen, Johanna M. van Hagen, Tej K. Pandita, Pankaj B. Agrawal, Philippe M. Campeau, Xiang‐Jiao Yang

    Vydáno 2019
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  16. 16
    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis Autor Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, Jill Clayton‐Smith, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, Jeroen Schoots, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Vydáno 2012
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  17. 17
    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder Autor Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, George F. Borm, Jill Clayton‐Smith, Cheri Deal, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, A. Erik Sluiter, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    Vydáno 2012
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  18. 18
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome Autor Saskia M. Maas, Adam Shaw, Hennie Bikker, H.-J. Lüdecke, Karin van der Tuin, Magdalena Badura‐Stronka, Elga Fabia Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, Jan-Maarten Cobben, de Man, Nicolette S. den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos‐Bieleńska, Anneke Maat‐Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian Bomme Ousager, Jacek Pilch, Astrid S. Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie T. R. M. Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joanne Verheij, Marcel M.A.M. Mannens, Raoul C. M. Hennekam

    Vydáno 2015
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  19. 19
    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

    Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients Autor Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, Thomas Rosenberg, Frits A. Beemer, Jules G. Leroy, Laila Bendix, Erik Björck, M Bonduelle, Odile Boute, Valérie Cormier‐Daire, Christine De Die-Smulders, Anne Dieux‐Coëslier, Hélène Dollfus, Mariet Elting, Andrew Green, Veronica Ileana Guerci, Raoul C. M. Hennekam, Yvonne Hilhorts-Hofstee, Muriel Holder, Carel C B Hoyng, Kristi Jones, Dragana Josifova, Ilkka Kaitila, Suzanne Kjaergaard, Yolande H Kroes, Kristina Lagerstedt‐Robinson, Melissa Lees, Martine LeMerrer, Cinzia Magnani, Carlo Marcelis, Loreto Martorell, Michèle Mathieu, Meriel McEntagart, Angela Mendicino, Jenny Morton, Gabrielli Orazio, Véronique Paquis, Orit Reish, K. O. J. Simola, Sarah Smithson, I. Karen Temple, Elisabeth Van Aken, Yolande van Bever, Jenneke van den Ende, Johanna M. van Hagen, Leopoldo Zelante, Riina Žordania, Anne De Paepe, Bart P. Leroy, Marc De Buyzere, Paul Coucke, Geert Mortier

    Vydáno 2010
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  20. 20
    Further delineation of Malan syndrome

    Further delineation of Malan syndrome Autor Manuela Priolo, Denny Schanze, Katrin Tatton-Brown, Paul A. Mulder, Jair Tenorio, Kreepa Kooblall, Inés Hernández Acero, Fowzan S. Alkuraya, Pedro Arias, Laura Bernardini, Emilia K. Bijlsma, Trevor Cole, Christine Coubes, Irene Dapía, Sally Davies, Nataliya Di Donato, Nursel Elçioğlu, Jill A. Fahrner, Alison Foster, Noelia García González, Ilka Huber, Maria Iascone, Ann-Sophie Kaiser, Arveen Kamath, Jan Liebelt, Sally Ann Lynch, Saskia M. Maas, Corrado Mammì, Inge B. Mathijssen, Shane McKee, Leonie A. Menke, Ghayda Mirzaa, Tara Montgomery, D. Neubauer, Thomas Neumann, Letizia Pintomalli, Maria Antonietta Pisanti, Astrid S. Plomp, Sue Price, Claire Salter, Fernando Santos‐Simarro, Pierre Sarda, Mabel Segovia, Charles Shaw‐Smith, Sarah Smithson, Mohnish Suri, Rita Valdéz, Arie van Haeringen, Johanna M. van Hagen, Marcella Zollino, Pablo Lapunzina, Rajesh V. Thakker, Martin Zenker, Raoul C. M. Hennekam

    Vydáno 2018
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