Resultats de la cerca - Paulien A. Terhal

Refinar resultats
  1. 1
    Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted<i>DLK1/GTL2</i>gene cluster

    Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted<i>DLK1/GTL2</i>gene cluster per Karin Buiting, Deniz Kanber, José I. Martı́n-Subero, Wolfgang Lieb, Paulien A. Terhal, Beate Albrecht, Sabine Purmann, Stephanie Groß, Christina Lich, Reiner Siebert, Bernhard Horsthemke, Gabriele Gillessen‐Kaesbach

    Publicat 2008
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  2. 2
    De novo substitutions of TRPM3 cause intellectual disability and epilepsy

    De novo substitutions of TRPM3 cause intellectual disability and epilepsy per David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen L.I. van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines

    Publicat 2019
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  3. 3
    Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype

    Hypomethylation of the H19 Gene Causes Not Only Silver-Russell Syndrome (SRS) but Also Isolated Asymmetry or an SRS-Like Phenotype per Jet Bliek, Paulien A. Terhal, Marie-José van den Bogaard, Saskia M. Maas, Ben C.J. Hamel, Georgette B. Salieb–Beugelaar, Marleen Simon, Tom G.W. Letteboer, Jasper van der Smagt, Hester Kroes, Marcel M.A.M. Mannens

    Publicat 2006
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  4. 4
    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB per Andreas Zankl, Emma L. Duncan, Paul Leo, Graeme R. Clark, Evgeny A. Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno Leheup, Jim McGill, Steven McTaggart, Stephan Mittas, Anna L. Mitchell, Geert Mortier, Stephen P. Robertson, Marie Schroeder, Paulien A. Terhal, Matthew A. Brown

    Publicat 2012
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  5. 5
    Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

    Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome per 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

    Publicat 2012
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  6. 6
    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features

    Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features per Hallie Steinfeld, Megan T. Cho, Kyle Retterer, Rick Person, G. Bradley Schaefer, Noelle R. Danylchuk, Saleem Malik, Stephanie Burns Wechsler, Patricia G. Wheeler, Koen L.I. van Gassen, Paulien A. Terhal, Virginie J. M. Verhoeven, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Lindsay B. Henderson, Wendy K. Chung

    Publicat 2016
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  7. 7
    Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

    Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH per Joris A. Veltman, Yvonne M.H. Versleijen‐Jonkers, Inge Nuijten, Irene M. Janssen, Walter van der Vliet, Erik Huys, Joris Vermeesch, Griet Van Buggenhout, Jean‐Pierre Fryns, R.J.C. Admiraal, Paulien A. Terhal, Didier Lacombe, Ad Geurts van Kessel, Dominique Smeets, Eric Schoenmakers, Conny M.A. van Ravenswaaij‐Arts

    Publicat 2003
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  8. 8
    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

    Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans per Ryan P. Liegel, Mark T. Handley, Adam Ronchetti, S.D.M. Brown, Lars Langemeyer, Andrea Linford, Bo Chang, Deborah Morris‐Rosendahl, Sarah M. Carpanini, Renata Posmyk, Verity Harthill, Eamonn Sheridan, Ghada M. H. Abdel‐Salam, Paulien A. Terhal, Francesca Faravelli, Patrizia Accorsi, Lucio Giordano, Lorenzo Pinelli, Britta Hartmann, Allison D. Ebert, Francis A. Barr, Irene A. Aligianis, D.J. Sidjanin

    Publicat 2013
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  9. 9
    Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

    Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability per Glen R. Monroe, G. W. J. Frederix, Sanne M. C. Savelberg, Tamar I. de Vries, Karen Duran, Jasper J. van der Smagt, Paulien A. Terhal, Peter M. van Hasselt, Hester Y. Kroes, Nanda M. Verhoeven‐Duif, Isaäc J. Nijman, Ellen C. Carbo, Koen L.I. van Gassen, Nine Knoers, Anke M. Hövels, Mieke M. van Haelst, Gepke Visser, Gijs van Haaften

    Publicat 2016
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  10. 10
    Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2

    Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2 per Minna Pekkinen, Paulien A. Terhal, Lorenzo D. Botto, Petra Henning, Riikka E. Mäkitie, Paul Roschger, Amrita Jain, Matthijs Kol, Matti A. Kjellberg, Eleftherios P. Paschalis, Koen L.I. van Gassen, Mary Murray, Pinar Bayrak‐Toydemir, Maria K. Magnusson, Judith Jans, Mehran Kausar, John C. Carey, Pentti Somerharju, Ulf H. Lerner, Vesa M. Olkkonen, Klaus Klaushofer, Joost C. M. Holthuis, Outi Mäkitie

    Publicat 2019
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  11. 11
    De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

    De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms per Karin Weiss, Paulien A. Terhal, Lior Cohen, Michael Bruccoleri, Melita Irving, Ariel F. Martinez, Jill A. Rosenfeld, Keren Machol, Yaping Yang, Pengfei Liu, Magdalena Walkiewicz, Joke Beuten, Natalia Gomez‐Ospina, Katrina Haude, Chin-To Fong, Gregory M. Enns, Jonathan A. Bernstein, Judith Fan, Garrett Gotway, Mohammad Ghorbani, Koen L.I. van Gassen, Glen R. Monroe, Gijs van Haaften, Lina Basel‐Vanagaite, Xiang‐Jiao Yang, Philippe M. Campeau, Maximilian Muenke

    Publicat 2016
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  12. 12
    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

    De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder per Lot Snijders Blok, Susan M. Hiatt, Kevin M. Bowling, Jeremy W. Prokop, Krysta L. Engel, J. Nicholas Cochran, E. Martina Bebin, Emilia K. Bijlsma, Claudia Ruivenkamp, Paulien A. Terhal, Marleen Simon, Rosemarie Smith, Jane A. Hurst, Heather M. McLaughlin, Richard Person, Amy Crunk, Michael F. Wangler, Haley Streff, Joseph D. Symonds, Sameer M. Zuberi, Katherine S. Elliott, Victoria R. Sanders, Abigail Masunga, Robert J. Hopkin, Holly Dubbs, Xilma R. Ortiz‐González, Rolph Pfundt, Han G. Brunner, Simon E. Fisher, Tjitske Kleefstra, Gregory M. Cooper

    Publicat 2018
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  13. 13
    Identification of human D lactate dehydrogenase deficiency

    Identification of human D lactate dehydrogenase deficiency per Glen R. Monroe, Albertien M. van Eerde, Federico Tessadori, Karen Duran, Sanne M. C. Savelberg, Johanna C. van Alfen, Paulien A. Terhal, Saskia N. van der Crabben, Klaske D. Lichtenbelt, Sabine A. Fuchs, Johan Gerrits, Markus J. van Roosmalen, Koen L.I. van Gassen, M. van Aalderen, Bart G.P. Koot, M. van Oostendorp, Marinus Durán, Gepke Visser, Tom J. de Koning, Francesco Calı̀, Paolo Bosco, Karin Geleijns, Monique G.M. de Sain‐van der Velden, Nine Knoers, Jeroen Bakkers, Nanda M. Verhoeven‐Duif, Gijs van Haaften, Judith Jans

    Publicat 2019
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  14. 14
    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 per 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

    Publicat 2012
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  15. 15
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders per Sara Reynhout, Sandra Jansen, Dorien Haesen, Siska Van Belle, Sonja A. de Munnik, Ernie M.H.F. Bongers, Jolanda Schieving, Carlo Marcelis, Jeanne Amiel, Marlène Rio, Heather M. McLaughlin, Roger L. Ladda, Susan L. Sell, Marjolein Kriek, Cacha Peeters‐Scholte, Paulien A. Terhal, Koen L.I. van Gassen, Nienke E. Verbeek, Sonja Henry, Jessica Scott Schwoerer, Saleem Malik, Nicole Revençu, Carlos R. Ferreira, Ellen F. Macnamara, Hilde M. H. Braakman, Elise Brimble, Maura Ruzhnikov, Matias Wagner, Philip Harrer, Dagmar Wieczorek, Alma Kuechler, Barak Tziperman, Ortal Barel, Bert B.A. de Vries, Christopher T. Gordon, Veerle Janssens, Lisenka E.L.M. Vissers

    Publicat 2018
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  16. 16
    Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

    Deleterious de novo variants of X‐linked <i>ZC4H2</i> in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita per Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sébastien Jacquemont, Paulien A. Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, Richard Webster, Margje Sinnema, Omar Abdul‐Rahman, Vanessa Suckow, Alberto Fernández‐Jaén, Kees van Roozendaal, Servi J.C. Stevens, Merryn Macville, Salwan Al‐Nasiry, Koen L.I. van Gassen, N Utzig, Suzanne M. Koudijs, Lesley McGregor, Saskia M. Maas, Diana Baralle, Abhijit Dixit, Peter Wieacker, Marcus Lee, Arthur S. Lee, Elizabeth C. Engle, Gunnar Houge, Gyri Aasland Gradek, Andrew G. L. Douglas, Cheryl Longman, Shelagh Joss, Danita Velasco, Raoul C. M. Hennekam, Hiromi Hirata, Vera M. Kalscheuer

    Publicat 2019
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  17. 17
    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

    Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases per Nancy Végas, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa Luiza Romanelli Tavares, Hugo Moisset, Roseli Maria Zechi‐Ceide, Nancy Mizue Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Hon‐Yin Chung, Nicole Revençu, Daphné Lehalle, Florence Petit, Evan J. Propst, Blake C. Papsin, John H. Phillips, Linda P. Jakobsen, Pauline Le Tanno, Julien Thévenon, Julie McGaughran, Erica H. Gerkes, Chiara Leoni, Peter M. Kroisel, Tiong Yang Tan, Alex Henderson, Paulien A. Terhal, Lina Basel‐Vanagaite, A. Alkindy, Susan M. White, Maria Rita Passos‐Bueno, Véronique Pingault, Loïc de Pontual, Jeanne Amiel

    Publicat 2022
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  18. 18
    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 per 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

    Publicat 2012
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  19. 19
    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

    Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome per Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga Schepens, C Man, Christian Gilissen, Megan T. Cho, Kirsty McWalter, Margje Sinnema, James W. Wheless, Marleen Simon, Casie A. Genetti, Alicia Casey, Paulien A. Terhal, Jasper J. van der Smagt, Koen L.I. van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas‐Rothschild, David A. Koolen, Pankaj B. Agrawal, Trevor L. Hoffman, Nina Powell‐Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf A. Bodamer, Julia Hoefele, Korbinian M. Riedhammer, Eva Maria Christina Schwaibold, Velibor Tasić, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R. Higgs, Jamie M. Kramer, Tjitske Kleefstra

    Publicat 2020
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  20. 20
    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells per Davor Lessel, Christina Gehbauer, Nuria C. Bramswig, Caroline Schluth–Bolard, Sathish Venkataramanappa, Koen L.I. van Gassen, Maja Hempel, Tobias B. Haack, Anja Barešić, Casie A. Genetti, Mariana F.A. Funari, Ivana Lessel, Leonie Kuhlmann, Ruth Simon, Pentao Liu, Jonas Denecke, Alma Kuechler, Ineke de Kruijff, Moneef Shoukier, Monkol Lek, Thomas E. Mullen, Hermann-Josef Lüdecke, Antônio Marcondes Lerário, Robin Kobbe, Thorsten Krieger, Bénédicte Demeer, Marine Lebrun, Boris Keren, Caroline Nava, Julien Buratti, Alexandra Afenjar, Marwan Shinawi, María J. Guillen Sacoto, Julie Gauthier, Fadi F. Hamdan, Anne‐Marie Laberge, Philippe M. Campeau, Raymond J. Louie, Sara Cathey, Immo Prinz, Alexander A.L. Jorge, Paulien A. Terhal, Boris Lenhard, Dagmar Wieczorek, Tim M. Strom, Pankaj B. Agrawal, Stefan Britsch, Eva Tolosa, Christian Kubisch

    Publicat 2018
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