Результати пошуку - Malin Kvarnung

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  1. 1
    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

    From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intell... за авторством Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M.B. Carvalho, Malin Kvarnung, Giedre Grigelioniené, Britt‐Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö, Patrik Georgii‐Hemming, Erik Iwarsson, Maria Soller, Kristina Lagerstedt‐Robinson, Agne Liedén, Måns Magnusson, Marcel Martin, Helena Malmgren, Magnus Nordenskjöld, Ameli Norling, Ellika Sahlin, Henrik Stranneheim, Emma Tham, Josephine Wincent, Sofia Ygberg, Anna Wedell, Valtteri Wirta, Ann Nordgren, Johanna Lundin, Daniel Nilsson

    Опубліковано 2019
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  2. 2
    Clinical and molecular consequences of disease-associated de novo mutations in SATB2

    Clinical and molecular consequences of disease-associated de novo mutations in SATB2 за авторством Hemant Bengani, Mark T. Handley, Mohsan Alvi, Rita Ibitoye, Melissa Lees, Sally Ann Lynch, Wayne Lam, Madeleine Fannemel, Ann Nordgren, H Malmgren, Malin Kvarnung, Sarju Mehta, Shane McKee, Margo Whiteford, Fiona Stewart, Fiona Connell, Jill Clayton‐Smith, Sahar Mansour, Shehla Mohammed, Alan Fryer, Jenny Morton, Detelina Grozeva, Tara Asam, David Moore, Alejandro Sifrim, Jeremy McRae, Matthew E. Hurles, Helen V. Firth, F. Lucy Raymond, Usha Kini, Christoffer Nellåker, David Fitzpatrick

    Опубліковано 2017
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  3. 3
    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

    De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome за авторством Sandra Jansen, Sinje Geuer, Rolph Pfundt, Rachel Brough, Priyanka Ghongane, Johanna C. Herkert, Elysa J. Marco, Marjolein H. Willemsen, Tjitske Kleefstra, Mark C. Hannibal, Joseph T.C. Shieh, Sally Ann Lynch, Frances Flinter, David Fitzpatrick, Alice Gardham, Birgitta Bernhard, Nicola Ragge, Ruth Newbury‐Ecob, Raphael Bernier, Malin Kvarnung, Elin Magnusson, Marja W. Wessels, Marjon A. van Slegtenhorst, Kristin G. Monaghan, Petra de Vries, Joris A. Veltman, Christopher J. Lord, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Опубліковано 2017
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  4. 4
    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

    Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains за авторством Madeleine R. Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P. Coe, Tychele N. Turner, Holly A.F. Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend, Jan Liebelt, Christopher Barnett, Elizabeth M. Thompson, Eric Haan, Hui Guo, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Geert Vandeweyer, A Alberti, Emanuela Avola, Mirella Vinci, Stefania Giusto, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, Jacob J. Michaelson, Zdeněk Sedláček, Gijs W.E. Santen, Hilde Peeters, Hákon Hákonarson, Eric Courchesne, Corrado Romano, R. Frank Kooy, Raphael Bernier, Magnus Nordenskjöld, Jozef Gécz, Kun Xia, Larry S. Zweifel, Evan E. Eichler

    Опубліковано 2017
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  5. 5
    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling

    Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling за авторством Mustapha Amyere, Nicole Revençu, Raphaël Helaers, Eleonore Pairet, Eulàlia Baselga, Maria Cordisco, Wendy K. Chung, Josée Dubois, J.‐P. Lacour, Loreto Martorell, J. Mazereeuw‐Hautier, Reed E. Pyeritz, David J. Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, A. Dompmartin, David G. Brooks, Juliette Dupont, María Antonia González-Enseñat, Ilona J. Frieden, Marion Gérard, Malin Kvarnung, Andrea Hanson‐Kahn, Louanne Hudgins, C. Léauté‐Labrèze, Catherine McCuaïg, Denise W. Metry, P. Parent, C. Paul, Florence Petit, Alice Phan, I. Quéré, Aïcha Salhi, Anne Turner, P. Vabres, Asunción Vicente, Orli Wargon, Shôji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B. Mulliken, Laurence M. Boon, Miikka Vikkula

    Опубліковано 2017
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  6. 6
    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

    Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients за авторством Henrik Stranneheim, Kristina Lagerstedt‐Robinson, Måns Magnusson, Malin Kvarnung, Daniel Nilsson, Nicole Lesko, Martin Engvall, Britt‐Marie Anderlid, Henrik Arnell, Carolina Backman Johansson, Michela Barbaro, Erik Björck, Helene Bruhn, Jesper Eisfeldt, Christoph Freyer, Giedre Grigelioniené, Peter Gustavsson, Anna Hammarsjö, Maritta Hellström-Pigg, Erik Iwarsson, Anders Jemt, Mikael Laaksonen, Sara Lind Enoksson, Helena Malmgren, K Naess, Magnus Nordenskjöld, Mikael Oscarson, Maria Pettersson, Chiara Rasi, Adam Rosenbaum, Ellika Sahlin, Eliane Sardh, Tommy Stödberg, Bianca Tesi, Emma Tham, Håkan Thonberg, Virpi Töhönen, Ulrika von Döbeln, Daphne Vassiliou, Sofie Vonlanthen, Ann–Charlotte Wikström, Josephine Wincent, Ola Winqvist, Anna Wredenberg, Sofia Ygberg, Rolf Zetterström, Per Marits, Maria Soller, Ann Nordgren, Valtteri Wirta, Anna Lindstrand, Anna Wedell

    Опубліковано 2021
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  7. 7
    A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

    A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency за авторством Sandra Jansen, Alexander Hoischen, Bradley P. Coe, Gemma L. Carvill, Hilde Van Esch, Daniëlle G.M. Bosch, Ulla A. Andersen, Carl Baker, Marijke Bauters, Raphael Bernier, Bregje W.M. van Bon, Hedi L. Claahsen‐van der Grinten, Jozef Gécz, Christian Gilissen, Lucia Grillo, Anna Hackett, Tjitske Kleefstra, David A. Koolen, Malin Kvarnung, Martin J. Larsen, Carlo Marcelis, F. Ellis McKenzie, Marie-Lorraine Monin, Caroline Nava, Janneke Schuurs-Hoeijmakers, Rolph Pfundt, Marloes Steehouwer, Servi J.C. Stevens, Connie T. R. M. Stumpel, Fleur Vansenne, Mirella Vinci, Maartje van de Vorst, Petra de Vries, Kali Witherspoon, Joris A. Veltman, Han G. Brunner, Heather C. Mefford, Corrado Romano, Lisenka E.L.M. Vissers, Evan E. Eichler, Bert B.A. de Vries

    Опубліковано 2017
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  8. 8
    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders

    Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders за авторством Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková, Osnat Penn, Alexander Hoischen, Bo Xiong, Tianyun Wang, Kendra Hoekzema, Laura Vives, Ida Vogel, Han G. Brunner, Ineke van der Burgt, Charlotte W. Ockeloen, Janneke Schuurs-Hoeijmakers, Jolien S. Klein Wassink‐Ruiter, Connie T. R. M. Stumpel, Servi J.C. Stevens, Hans S.H. Vles, Carlo Marcelis, Hans van Bokhoven, Vincent Cantagrel, Laurence Colleaux, Michaël Nicouleau, Stanislas Lyonnet, Raphael A. Bernier, Jennifer Gerdts, Bradley P. Coe, Corrado Romano, A Alberti, Lucia Grillo, Carmela Scuderi, Magnus Nordenskjöld, Malin Kvarnung, Hui Guo, Kun Xia, Amélie Piton, Bénédicte Gérard, David Geneviève, Bruno Delobel, Daphné Lehalle, Laurence Perrin, Fabienne Prieur, Julien Thévenon, Jozef Gécz, Marie Shaw, Rolph Pfundt, Boris Keren, Aurélia Jacquette, Annette Schenck, Evan E. Eichler, Tjitske Kleefstra

    Опубліковано 2016
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  9. 9
    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases за авторством Holly A.F. Stessman, Bo Xiong, Bradley P. Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fencková, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N. Turner, Gijs W.E. Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt, Christopher Barnett, Eric Haan, Marie Shaw, Jozef Gécz, Britt-Marie Anderlid, Ann Nordgren, Anna Lindstrand, Charles E. Schwartz, R. Frank Kooy, Geert Vandeweyer, Céline Helsmoortel, Corrado Romano, A Alberti, Mirella Vinci, Emanuela Avola, Stefania Giusto, Eric Courchesne, Tiziano Pramparo, Karen Pierce, Srinivasa Nalabolu, David G. Amaral, Ingrid E. Scheffer, Martin B. Delatycki, Paul J. Lockhart, Fereydoun Hormozdiari, Benjamin Harich, Anna Castells‐Nobau, Kun Xia, Hilde Peeters, Magnus Nordenskjöld, Annette Schenck, Raphael Bernier, Evan E. Eichler

    Опубліковано 2017
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  10. 10
    Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission

    Disruptive variants of <i>CSDE1</i> associate with autism and interfere with neuronal development and synaptic transmission за авторством Hui Guo, Ying Li, Lu Shen, Tianyun Wang, Xiangbin Jia, Lijuan Liu, Tao Xu, Mengzhu Ou, Kendra Hoekzema, Huidan Wu, Madelyn A. Gillentine, Cenying Liu, Hailun Ni, Pengwei Peng, Rongjuan Zhao, Yu Zhang, Chanika Phornphutkul, Alexander P.A. Stegmann, Carlos E. Prada, Robert J. Hopkin, Joseph T.C. Shieh, Kirsty McWalter, Kristin G. Monaghan, Peter M. van Hasselt, Koen L.I. van Gassen, Ting Bai, Long Min, Lin Han, Yingting Quan, Meilin Chen, Yaowen Zhang, Kuokuo Li, Qiumeng Zhang, Jieqiong Tan, Tengfei Zhu, Yaning Liu, Nan Pang, Jing Peng, Daryl A. Scott, Seema R. Lalani, Mahshid S. Azamian, Grazia M.S. Mancini, Darius J. Adams, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jonathan Pevsner, Ikeoluwa Osei‐Owusu, Corrado Romano, Giuseppe Calabrese, Ornella Galesi, Jozef Gécz, Eric Haan, Judith D. Ranells, Melissa Racobaldo, Magnus Nordenskjöld, Suneeta Madan‐Khetarpal, Jessica Sebastian, Susie Ball, Xiaobing Zou, Jingping Zhao, Zhengmao Hu, Fan Xia, Pengfei Liu, Jill A. Rosenfeld, Bert B.A. de Vries, Raphael Bernier, Qing Xu, Honghui Li, Wei Xie, Robert B. Hufnagel, Evan E. Eichler, Kun Xia

    Опубліковано 2019
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  11. 11
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders за авторством Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks

    Опубліковано 2021
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  12. 12
    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

    De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias за авторством Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, Ivana A. Souza, Candace T. Myers, Betül Seher Uysal, Niklas Schwarz, María A. Gandini, Sun Huang, Boris Keren, Cyril Mignot, Alexandra Afenjar, Thierry Billette de Villemeur, Delphine Héron, Caroline Nava, Stéphanie Valence, Julien Buratti, Christina Fagerberg, Kristina P. Soerensen, Maria Kibæk, Erik‐Jan Kamsteeg, David A. Koolen, Boudewijn Gunning, Helenius J. Schelhaas, Michael C. Kruer, Jordana Fox, Somayeh Bakhtiari, Randa Jarrar, Sergio Padilla-López, Kristin Lindstrom, Sheng Chih Jin, Xue Zeng, Kaya Bilgüvar, Antigone Papavasileiou, Qinghe Xing, Changlian Zhu, Katja Boysen, Filippo Pinto e Vairo, Brendan C. Lanpher, Eric W. Klee, Jan‐Mendelt Tillema, Eric T. Payne, Margot A. Cousin, Teresa Kruisselbrink, Myra J. Wick, Joshua Baker, Eric Haan, Nicholas Smith, Azita Sadeghpour, Erica E. Davis, Nicholas Katsanis, Mark Corbett, Alastair H. MacLennan, Jozef Gécz, Saskia Biskup, Eva Goldmann, Lance H. Rodan, Elizabeth Kichula, Eric Segal, Kelly E. Jackson, Alexander Asamoah, David Dimmock, Julie McCarrier, Lorenzo D. Botto, Francis Filloux, Tatiana Tvrdik, Gregory D. Cascino, Sherry Klingerman, Catherine M. Neumann, Raymond Wang, Jessie C. Jacobsen, Melinda Nolan, Russell G. Snell, Klaus Lehnert, Lynette G. Sadleir, Britt‐Marie Anderlid, Malin Kvarnung, Renzo Guerrini, Michael J. Friez, Michael J. Lyons, Jennifer Leonhard, Gabriel Kringlen, Kari Casas, Christelle Moufawad El Achkar, Lacey Smith, Alexander Rotenberg, Annapurna Poduri, Alba Sanchis‐Juan, Keren Carss, Julia Rankin, Adam Zeman, F. Lucy Raymond, Moira Blyth, Bronwyn Kerr, Karla Ruiz, Jill Urquhart, Imelda Hughes, Siddharth Banka, Ulrike B. S. Hedrich, Ingrid E. Scheffer

    Опубліковано 2018
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  13. 13
    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

    Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability за авторством Benjamin Cogné, Sophie Ehresmann, Éliane Beauregard‐Lacroix, Justine Rousseau, Thomas Besnard, Thomas X. Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer Humberson, Laurie Robak, Daryl A. Scott, V. Reid Sutton, Cara Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zárate, Malin Kvarnung, Kevin P. Lally, Peggy Kulch, Brina Daniels, Andrés Hernández, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer A. Sullivan, Madeleine R. Geisheker, Asbjørg Stray‐Pedersen, Jennifer Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth M. Kalb, Megha Desai, Ashley H. Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep Coban‐Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza H. Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne‐Sophie Denommé‐Pichon, Claude Férec

    Опубліковано 2019
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  14. 14
    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

    Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders за авторством Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P. Coe, Madelyn A. Gillentine, Amy B. Wilfert, Luis A. Pérez‐Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K. Earl, Jill A. Rosenfeld, Madeleine R. Geisheker, Lin Han, Bing Du, Chris Barnett, E. A. Thompson, Marie Shaw, Renée Carroll, Kathryn Friend, Rachael Catford, Elizabeth E. Palmer, Xiaobing Zou, Jianjun Ou, Honghui Li, Hui Guo, Jennifer Gerdts, Emanuela Avola, Giuseppe Calabrese, Maurizio Elia, Donatella Greco, Anna Lindstrand, Ann Nordgren, Britt‐Marie Anderlid, Geert Vandeweyer, Anke Van Dijck, Nathalie Van der Aa, Brooke G. McKenna, Miroslava Hančárová, Šárka Bendová, Markéta Havlovicová, Giovanni Malerba, Bernardo Dalla Bernardina, Pierandrea Muglia, Arie van Haeringen, Mariëtte J.V. Hoffer, Barbara Franke, Gerarda Cappuccio, Martin B. Delatycki, Paul J. Lockhart, Melanie A. Manning, Pengfei Liu, Ingrid E. Scheffer, Nicola Brunetti‐Pierri, Nanda Rommelse, David G. Amaral, Gijs W.E. Santen, Elisabetta Trabetti, Zdeněk Sedláček, Jacob J. Michaelson, Karen Pierce, Eric Courchesne, R. Frank Kooy, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks, Martin E. Butler, Lindsey A. Cartner, Wubin Chin, Wendy K. Chung, Amy M. Daniels, Pamela Feliciano, Chris Fleisch, Swami Ganesan, William B. Jensen, Alex E. Lash, Richard P. Marini, Vincent J. Myers, Eirene O’Connor, Chris Rigby, B. E. Robertson, Neelay Shah, Swapnil Shah, Emily Singer, LeeAnne Green Snyder, Alexandra N. Stephens, Jennifer Tjernagel, Brianna M. Vernoia, Natalia Volfovsky, L. Casey White, Alexander Hsieh, Yufeng Shen, Xueya Zhou, Tychele N. Turner, Ethan Bahl, Taylor R. Thomas

    Опубліковано 2020
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  15. 15
    DLG4-related synaptopathy: a new rare brain disorder

    DLG4-related synaptopathy: a new rare brain disorder за авторством Agustí Rodríguez‐Palmero, Melissa M. Boerrigter, David Gómez‐Andrés, Kimberly A. Aldinger, Íñigo Marcos‐Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, Stéphanie Arpin, Vahid Bahrambeigi, Gea Beunders, Anne‐Marie Bisgaard, Victoria A. Bjerregaard, Ange‐Line Bruel, Thomas D. Challman, Benjamin Cogné, Christine Coubes, de Man, Anne‐Sophie Denommé‐Pichon, Thomas J. Dye, Frances Elmslie, Lars Feuk, Sixto García‐Miñaúr, Tracy S. Gertler, Elisa Giorgio, Nicolas Gruchy, Tobias B. Haack, Chad R. Haldeman‐Englert, Bjørn Ivar Haukanes, Juliane Hoyer, Anna Hurst, Bertrand Isidor, Maria Soller, Sulagna Kushary, Malin Kvarnung, Yuval E. Landau, Kathleen A. Leppig, Anna Lindstrand, Lotte Kleinendorst, Alex MacKenzie, Giorgia Mandrile, Bryce A. Mendelsohn, Setareh Moghadasi, Jenny E.V. Morton, Sébastien Moutton, Amelie J. Müller, Melanie O’Leary, Marta Pacio‐Míguez, María Palomares‐Bralo, Sumit Parikh, Rolph Pfundt, Ben Pode‐Shakked, Anita Rauch, Elena Repnikova, Anya Revah‐Politi, Meredith J. Ross, Claudia Ruivenkamp, Elisabeth Sarrazin, Juliann M. Savatt, Agatha Schlüter, Bitten Schönewolf‐Greulich, Zohra Shad, Charles Shaw‐Smith, Joseph T.C. Shieh, M Shohat, Stephanie Spranger, Heidi Thiese, Frédéric Tran Mau‐Them, Bregje W.M. van Bon, Ineke van de Burgt, Ingrid M.B.H. van de Laar, Esmée van Drie, Mieke M. van Haelst, Conny M.A. van Ravenswaaij‐Arts, Edgard Verdura, Antonio Vitobello, Stephan Waldmüller, Sharon Whiting, Christiane Zweier, Carlos E. Prada, Bert B.A. de Vries, William B. Dobyns, Simone Frizell Reiter, Paulino Gómez‐Puertas, Aurora Pujol, Zeynep Tümer

    Опубліковано 2021
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  16. 16
    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP за авторством Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf, Grazia M.S. Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E. Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B.A. de Vries, Sébastien Küry, Jill A. Rosenfeld, Marije Meuwissen, Geert Vandeweyer, R. Frank Kooy, Madhura Bakshi, Meredith Wilson, Yemina Berman, Rebecca Dickson, Erik Fransén, Céline Helsmoortel, Jenneke van den Ende, Nathalie Van der Aa, Marina J. van de Wijdeven, Jessica Rosenblum, Fabíola Paoli Monteiro, Fernando Kok, Nada Quercia, Sarah Bowdin, David A. Dyment, David Chitayat, Ebba Alkhunaizi, Susanne E. Boonen, Boris Keren, Aurélia Jacquette, Laurence Faivre, Stéphane Bézieau, Bertrand Isidor, Angelika Rieß, Ute Moog, Sally Ann Lynch, Terri McVeigh, Orly Elpeleg, Marie Falkenberg Smeland, Madeleine Fannemel, Arie van Haeringen, Saskia M. Maas, Hermine E. Veenstra‐Knol, Meyke Schouten, Marjolein H. Willemsen, Carlo Marcelis, Charlotte W. Ockeloen, Ineke van der Burgt, Ilse Feenstra, Jasper van der Smagt, Aleksandra Jezela‐Stanek, Małgorzata Krajewska‐Walasek, Domingo González‐Lamuño, Britt‐Marie Anderlid, Helena Malmgren, Magnus Nordenskjöld, Emma Clement, Jane A. Hurst, Kay Metcalfe, Sahar Mansour, Katherine Lachlan, Jill Clayton‐Smith, Laura G. Hendon, Omar Abdul‐Rahman, Eric M. Morrow, Clare McMillan, Jennifer Gerdts, Joseph Peeden, Samantha A. Schrier Vergano, Caitlin Valentino, Wendy K. Chung, Jillian R. Ozmore, Sandra Bedrosian‐Sermone, Anna Dennis, Kayla Treat, Susan Hughes, Nicole P. Safina, Jean‐Baptiste Le Pichon, Marianne McGuire, Elena Infante, Suneeta Madan‐Khetarpal, Sonal Desai, Paul J. Benke, Alyson Krokosky, Ingrid Cristian, Laura Baker, Karen W. Gripp, Holly A.F. Stessman, Jacob A. Eichenberger, Parul Jayakar

    Опубліковано 2018
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    Artigo
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