Hasil Pencarian - Han Brunner

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  1. 1
    SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ

    SINDROMUL BARDET-BIEDL – PREZENTARE DE CAZ oleh Sorin Ioan Iurian, Heleen Arts, Han Brunner, Dana Fîntînă

    Diterbitkan 2015-09-01
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  2. 2
    BARDET-BIEDL SYNDROME – CASE PRESENTATION

    BARDET-BIEDL SYNDROME – CASE PRESENTATION oleh Sorin Ioan Iurian, Heleen Arts, Han Brunner, Dana Fintina

    Diterbitkan 2015-09-01
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  3. 3
    LEOPARD SYNDROME. FAMILIAL CASES

    LEOPARD SYNDROME. FAMILIAL CASES oleh Sorin Ioan Iurian, Han Brunner, Helger Yntema, Bogdan Mehedintu

    Diterbitkan 2014-03-01
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  4. 4
    SINDROMUL LEOPARD. CAZURI FAMILIALE

    SINDROMUL LEOPARD. CAZURI FAMILIALE oleh Sorin Ioan Iurian, Han Brunner, Helger Yntema, Bogdan Mehedinţu

    Diterbitkan 2014-03-01
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  5. 5
    Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series

    Genetic analysis of spinal dysraphism with a hamartomatous growth (appendix) of the spinal cord: a case series oleh Ronald H. M. A. Bartels, J. Andre Grotenhuis, Alexander P. A. Stegmann, Han Brunner

    Diterbitkan 2020-04-01
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  6. 6
    The Pathogenesis of Ventral Idiopathic Herniation of the Spinal Cord: A Hypothesis Based on the Review of the Literature

    The Pathogenesis of Ventral Idiopathic Herniation of the Spinal Cord: A Hypothesis Based on the Review of the Literature oleh Ronald H. M. A. Bartels, Han Brunner, Allard Hosman, Nens van Alfen, J. André Grotenhuis

    Diterbitkan 2017-09-01
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  7. 7
    SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT

    SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT oleh Sorin Ioan Iurian, Livia Ognean, Han Brunner, Leo Kluijtmans, Petr Jira, Dana Fintina, Bogdan Ionut Mehedintu

    Diterbitkan 2015-03-01
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  8. 8
    SINDROMUL SMITH-LEMLI-OPITZ. PREZENTARE DE CAZ

    SINDROMUL SMITH-LEMLI-OPITZ. PREZENTARE DE CAZ oleh Sorin Ioan Iurian, Livia Ognean, Han Brunner, Leo Kluijtmans, Petr Jira, Dana Fîntînă, Bogdan Ionuţ Mehedinţu

    Diterbitkan 2015-03-01
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  9. 9
    Current self-reported symptoms of attention deficit/hyperactivity disorder are associated with total brain volume in healthy adults.

    Current self-reported symptoms of attention deficit/hyperactivity disorder are associated with total brain volume in healthy adults. oleh Martine Hoogman, Mark Rijpkema, Luc Janss, Han Brunner, Guillen Fernandez, Jan Buitelaar, Barbara Franke, Alejandro Arias-Vásquez

    Diterbitkan 2012-01-01
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  10. 10
    Allele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort

    Allele-specific expression analysis for complex genetic phenotypes applied to a unique dilated cardiomyopathy cohort oleh Daan van Beek, Job Verdonschot, Kasper Derks, Han Brunner, Theo M. de Kok, Ilja C. W. Arts, Stephane Heymans, Martina Kutmon, Michiel Adriaens

    Diterbitkan 2023-01-01
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  11. 11
    Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome.

    Ubiquitin ligases of the N-end rule pathway: assessment of mutations in UBR1 that cause the Johanson-Blizzard syndrome. oleh Cheol-Sang Hwang, Maja Sukalo, Olga Batygin, Marie-Claude Addor, Han Brunner, Antonio Perez Aytes, Julia Mayerle, Hyun Kyu Song, Alexander Varshavsky, Martin Zenker

    Diterbitkan 2011-01-01
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  12. 12
    Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

    Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation oleh Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, Debby Hellebrekers, Marloes Steehouwer, Juliet Hampstead, Elke de Boer, Alexander Stegmann, Helger Yntema, Erik-Jan Kamsteeg, Han Brunner, Alexander Hoischen, Christian Gilissen

    Diterbitkan 2023-10-01
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  13. 13
    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

    Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disa... oleh Tracy Dudding-Byth, Anne Baxter, Elizabeth G. Holliday, Anna Hackett, Sheridan O’Donnell, Susan M. White, John Attia, Han Brunner, Bert de Vries, David Koolen, Tjitske Kleefstra, Seshika Ratwatte, Carlos Riveros, Steve Brain, Brian C. Lovell

    Diterbitkan 2017-12-01
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  14. 14
    Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons

    Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons oleh Jon-Ruben van Rhijn, Yan Shi, Maren Bormann, Britt Mossink, Monica Frega, Hatice Recaioglu, Marina Hakobjan, Teun Klein Gunnewiek, Chantal Schoenmaker, Elizabeth Palmer, Laurence Faivre, Sarah Kittel-Schneider, Dirk Schubert, Han Brunner, Barbara Franke, Nael Nadif Kasri

    Diterbitkan 2022-02-01
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  15. 15
    Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences

    Methylome-wide analysis of IVF neonates that underwent embryo culture in different media revealed no significant differences oleh Rebekka M. Koeck, Florence Busato, Jorg Tost, Dimitri Consten, Jannie van Echten-Arends, Sebastiaan Mastenbroek, Yvonne Wurth, Sylvie Remy, Sabine Langie, Tim S. Nawrot, Michelle Plusquin, Rossella Alfano, Esmée M. Bijnens, Marij Gielen, Ron van Golde, John C. M. Dumoulin, Han Brunner, Aafke P. A. van Montfoort, Masoud Zamani Esteki

    Diterbitkan 2022-06-01
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  16. 16
    Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology

    Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology oleh Yulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, Joanna Brühl, Konstantinos Sofiadis, Anne Zirkel, Spiros Palikyras, Athanasia Mizi, Yun Li, Gökhan Yigit, Alexander Hoischen, Stefan Frank, Nicole Russ, Jonathan Trautwein, Bregje van Bon, Christian Gilissen, Magdalena Laugsch, Eduardo Gade Gusmao, Natasa Josipovic, Janine Altmüller, Peter Nürnberg, Gernot Längst, Frank J. Kaiser, Erwan Watrin, Han Brunner, Alvaro Rada-Iglesias, Leo Kurian, Bernd Wollnik, Karim Bouazoune, Argyris Papantonis

    Diterbitkan 2021-05-01
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  17. 17
    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

    Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 oleh Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, M. McEntagart, F. Minneci, J. Mitchell, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, P. O‘Donovan, C.A. Odhams, C. Patch, D. Perez-Gil, M.B. Pereira, J. Pullinger, T. Rahim, A. Rendon, T. Rogers, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, S.C. Smith, A. Sosinsky, A. Stuckey, M. Tanguy, A.L. Taylor Tavares, E.R.A. Thomas, S.R. Thompson, A. Tucci, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki, Olaf Riess, Tobias B. Haack, Holm Graessner, Birte Zurek, Kornelia Ellwanger, Stephan Ossowski, German Demidov, Marc Sturm, Julia M. Schulze-Hentrich, Rebecca Schüle, Christoph Kessler, Melanie Wayand, Matthis Synofzik, Carlo Wilke, Andreas Traschütz, Ludger Schöls, Holger Hengel, Peter Heutink, Han Brunner, Hans Scheffer, Nicoline Hoogerbrugge, Alexander Hoischen, Peter A.C. ’t Hoen, Lisenka E.L.M. Vissers, Christian Gilissen, Wouter Steyaert, Karolis Sablauskas, Richarda M. de Voer, Erik-Jan Kamsteeg, Bart van de Warrenburg, Nienke van Os, Iris te Paske, Erik Janssen, Elke de Boer, Marloes Steehouwer, Burcu Yaldiz, Tjitske Kleefstra, Anthony J. Brookes, Colin Veal, Spencer Gibson, Marc Wadsley, Mehdi Mehtarizadeh, Umar Riaz, Greg Warren, Farid Yavari Dizjikan, Thomas Shorter, Ana Töpf, Volker Straub, Chiara Marini Bettolo, Sabine Specht, Jill Clayton-Smith, Siddharth Banka, Elizabeth Alexander, Adam Jackson, Laurence Faivre, Christel Thauvin, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Christine Peyron, Aurore Pélissier, Sergi Beltran, Ivo Glynne Gut, Steven Laurie, Davide Piscia, Leslie Matalonga, Anastasios Papakonstantinou, Gemma Bullich, Alberto Corvo, Carles Garcia, Marcos Fernandez-Callejo, Carles Hernández, Daniel Picó, Ida Paramonov, Hanns Lochmüller, Gulcin Gumus, Virginie Bros-Facer, Ana Rath, Marc Hanauer, Annie Olry, David Lagorce, Svitlana Havrylenko, Katia Izem, Fanny Rigour, Giovanni Stevanin, Alexandra Durr, Claire-Sophie Davoine, Léna Guillot-Noel, Anna Heinzmann, Giulia Coarelli, Gisèle Bonne, Teresinha Evangelista, Valérie Allamand, Isabelle Nelson, Rabah Ben Yaou, Corinne Metay, Bruno Eymard, Enzo Cohen, Antonio Atalaia, Tanya Stojkovic, Milan Macek, Jr., Marek Turnovec, Dana Thomasová, Radka Pourová Kremliková, Vera Franková, Markéta Havlovicová, Vlastimil Kremlik, Helen Parkinson, Thomas Keane, Dylan Spalding, Alexander Senf, Peter Robinson, Daniel Danis, Glenn Robert, Alessia Costa, Christine Patch, Mike Hanna, Henry Houlden, Mary Reilly, Jana Vandrovcova, Francesco Muntoni, Irina Zaharieva, Anna Sarkozy, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter de Jonghe, Vincenzo Nigro, Sandro Banfi, Annalaura Torella, Francesco Musacchia, Giulio Piluso, Alessandra Ferlini, Rita Selvatici, Rachele Rossi, Marcella Neri, Stefan Aretz, Isabel Spier, Anna Katharina Sommer, Sophia Peters, Carla Oliveira, Jose Garcia Pelaez, Ana Rita Matos, Celina São José, Marta Ferreira, Irene Gullo, Susana Fernandes, Luzia Garrido, Pedro Ferreira, Fátima Carneiro, Morris A. Swertz, Lennart Johansson, Joeri K. van der Velde, Gerben van der Vries, Pieter B. Neerincx, Dieuwke Roelofs-Prins, Sebastian Köhler, Alison Metcalfe, Alain Verloes, Séverine Drunat, Caroline Rooryck, Aurelien Trimouille, Raffaele Castello, Manuela Morleo, Michele Pinelli, Alessandra Varavallo, Manuel Posada De la Paz, Eva Bermejo Sánchez, Estrella López Martín, Beatriz Martínez Delgado, F. Javier Alonso García de la Rosa, Andrea Ciolfi, Bruno Dallapiccola, Simone Pizzi, Francesca Clementina Radio, Marco Tartaglia, Alessandra Renieri, Elisa Benetti, Peter Balicza, Maria Judit Molnar, Ales Maver, Borut Peterlin, Alexander Münchau, Katja Lohmann, Rebecca Herzog, Martje Pauly, Alfons Macaya, Anna Marcé-Grau, Andres Nascimiento Osorio, Daniel Natera de Benito, Hanns Lochmüller, Rachel Thompson, Kiran Polavarapu, David Beeson, Judith Cossins, Pedro M. Rodriguez Cruz, Peter Hackman, Mridul Johari, Marco Savarese, Bjarne Udd, Rita Horvath, Gabriel Capella, Laura Valle, Elke Holinski-Feder, Andreas Laner, Verena Steinke-Lange, Evelin Schröck, Andreas Rump

    Diterbitkan 2023-04-01
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