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	181.	Targeted knockout of a chemokine-like gene increases anxiety and fear responses. [electronic resource] by Choi, Jung-Hwa Jeong, Yun-Mi Kim, Sujin Lee, Boyoung Ariyasiri, Krishan Kim, Hyun-Taek Jung, Seung-Hyun Hwang, Kyu-Seok Choi, Tae-Ik Park, Chul O Huh, Won-Ki Carl, Matthias Rosenfeld, Jill A Raskin, Salmo Ma, Alan Gecz, Jozef Kim, Hyung-Goo Kim, Jin-Soo Shin, Ho-Chul Park, Doo-Sang Gerlai, Robert Jamieson, Bradley B Kim, Joon S Iremonger, Karl J Lee, Sang H Shin, Hee-Sup Kim, Cheol-Hee Producer: 20180725 In: Proceedings of the National Academy of Sciences of the United States of America vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	182.	THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. [electronic resource] by Kumar, Raman Corbett, Mark A van Bon, Bregje W M Woenig, Joshua A Weir, Lloyd Douglas, Evelyn Friend, Kathryn L Gardner, Alison Shaw, Marie Jolly, Lachlan A Tan, Chuan Hunter, Matthew F Hackett, Anna Field, Michael Palmer, Elizabeth E Leffler, Melanie Rogers, Carolyn Boyle, Jackie Bienek, Melanie Jensen, Corinna Van Buggenhout, Griet Van Esch, Hilde Hoffmann, Katrin Raynaud, Martine Zhao, Huiying Reed, Robin Hu, Hao Haas, Stefan A Haan, Eric Kalscheuer, Vera M Gecz, Jozef Producer: 20151029 In: American journal of human genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	183.	Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. [electronic resource] by Froyen, Guy Corbett, Mark Vandewalle, Joke Jarvela, Irma Lawrence, Owen Meldrum, Cliff Bauters, Marijke Govaerts, Karen Vandeleur, Lucianne Van Esch, Hilde Chelly, Jamel Sanlaville, Damien van Bokhoven, Hans Ropers, Hans-Hilger Laumonnier, Frederic Ranieri, Enzo Schwartz, Charles E Abidi, Fatima Tarpey, Patrick S Futreal, P Andrew Whibley, Annabel Raymond, F Lucy Stratton, Michael R Fryns, Jean-Pierre Scott, Rodney Peippo, Maarit Sipponen, Marjatta Partington, Michael Mowat, David Field, Michael Hackett, Anna Marynen, Peter Turner, Gillian Gécz, Jozef Producer: 20080317 In: American journal of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	184.	Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response. [electronic resource] by Johnson, Jennifer L Stoica, Loredana Liu, Yuwei Zhu, Ping Jun Bhattacharya, Abhisek Buffington, Shelly A Huq, Redwan Eissa, N Tony Larsson, Ola Porse, Bo T Domingo, Deepti Nawaz, Urwah Carroll, Renee Jolly, Lachlan Scerri, Tom S Kim, Hyung-Goo Brignell, Amanda Coleman, Matthew J Braden, Ruth Kini, Usha Jackson, Victoria Baxter, Anne Bahlo, Melanie Scheffer, Ingrid E Amor, David J Hildebrand, Michael S Bonnen, Penelope E Beeton, Christine Gecz, Jozef Morgan, Angela T Costa-Mattioli, Mauro Producer: 20200323 In: Neuron vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	185.	PHF6 mutations in T-cell acute lymphoblastic leukemia. [electronic resource] by Van Vlierberghe, Pieter Palomero, Teresa Khiabanian, Hossein Van der Meulen, Joni Castillo, Mireia Van Roy, Nadine De Moerloose, Barbara Philippé, Jan González-García, Sara Toribio, María L Taghon, Tom Zuurbier, Linda Cauwelier, Barbara Harrison, Christine J Schwab, Claire Pisecker, Markus Strehl, Sabine Langerak, Anton W Gecz, Jozef Sonneveld, Edwin Pieters, Rob Paietta, Elisabeth Rowe, Jacob M Wiernik, Peter H Benoit, Yves Soulier, Jean Poppe, Bruce Yao, Xiaopan Cordon-Cardo, Carlos Meijerink, Jules Rabadan, Raul Speleman, Frank Ferrando, Adolfo Producer: 20100416 In: Nature genetics vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	186.	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation. [electronic resource] by Lugtenberg, Dorien Zangrande-Vieira, Luiz Kirchhoff, Maria Whibley, Annabel C Oudakker, Astrid R Kjaergaard, Susanne Vianna-Morgante, Angela M Kleefstra, Tjitske Ruiter, Mariken Jehee, Fernanda S Ullmann, Reinhard Schwartz, Charles E Stratton, Michael Raymond, F Lucy Veltman, Joris A Vrijenhoek, Terry Pfundt, Rolph Schuurs-Hoeijmakers, Janneke H M Hehir-Kwa, Jayne Y Froyen, Guy Chelly, Jamel Ropers, Hans Hilger Moraine, Claude Gècz, Jozef Knijnenburg, Jeroen Kant, Sarina G Hamel, Ben C J Rosenberg, Carla van Bokhoven, Hans de Brouwer, Arjan P M Producer: 20100412 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	187.	Multiplex families with epilepsy: Success of clinical and molecular genetic characterization. [electronic resource] by Afawi, Zaid Oliver, Karen L Kivity, Sara Mazarib, Aziz Blatt, Ilan Neufeld, Miriam Y Helbig, Katherine L Goldberg-Stern, Hadassa Misk, Adel J Straussberg, Rachel Walid, Simri Mahajnah, Muhammad Lerman-Sagie, Tally Ben-Zeev, Bruria Kahana, Esther Masalha, Rafik Kramer, Uri Ekstein, Dana Shorer, Zamir Wallace, Robyn H Mangelsdorf, Marie MacPherson, James N Carvill, Gemma L Mefford, Heather C Jackson, Graeme D Scheffer, Ingrid E Bahlo, Melanie Gecz, Jozef Heron, Sarah E Corbett, Mark Mulley, John C Dibbens, Leanne M Korczyn, Amos D Berkovic, Samuel F Producer: 20160701 In: Neurology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	188.	Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. [electronic resource] by de Brouwer, Arjan P M Yntema, Helger G Kleefstra, Tjitske Lugtenberg, Dorien Oudakker, Astrid R de Vries, Bert B A van Bokhoven, Hans Van Esch, Hilde Frints, Suzanne G M Froyen, Guy Fryns, Jean-Pierre Raynaud, Martine Moizard, Marie-Pierre Ronce, Nathalie Bensalem, Anissa Moraine, Claude Poirier, Karine Castelnau, Laetitia Saillour, Yoann Bienvenu, Thierry Beldjord, Chérif des Portes, Vincent Chelly, Jamel Turner, Gillian Fullston, Tod Gecz, Jozef Kuss, Andreas W Tzschach, Andreas Jensen, Lars Riff Lenzner, Steffen Kalscheuer, Vera M Ropers, Hans-Hilger Hamel, Ben C J Producer: 20070228 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	189.	Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus. [electronic resource] by Raymond, F Lucy Tarpey, Patrick S Edkins, Sarah Tofts, Calli O'Meara, Sarah Teague, Jon Butler, Adam Stevens, Claire Barthorpe, Syd Buck, Gemma Cole, Jennifer Dicks, Ed Gray, Kristian Halliday, Kelly Hills, Katy Hinton, Jonathon Jones, David Menzies, Andrew Perry, Janet Raine, Keiran Shepherd, Rebecca Small, Alexandra Varian, Jennifer Widaa, Sara Mallya, Uma Moon, Jenny Luo, Ying Shaw, Marie Boyle, Jackie Kerr, Bronwyn Turner, Gillian Quarrell, Oliver Cole, Trevor Easton, Douglas F Wooster, Richard Bobrow, Martin Schwartz, Charles E Gecz, Jozef Stratton, Michael R Futreal, P Andrew Producer: 20070611 In: American journal of human genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	190.	Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. [electronic resource] by Kumar, Raman Corbett, Mark A Van Bon, Bregje W M Gardner, Alison Woenig, Joshua A Jolly, Lachlan A Douglas, Evelyn Friend, Kathryn Tan, Chuan Van Esch, Hilde Holvoet, Maureen Raynaud, Martine Field, Michael Leffler, Melanie Budny, Bartłomiej Wisniewska, Marzena Badura-Stronka, Magdalena Latos-Bieleńska, Anna Batanian, Jacqueline Rosenfeld, Jill A Basel-Vanagaite, Lina Jensen, Corinna Bienek, Melanie Froyen, Guy Ullmann, Reinhard Hu, Hao Love, Michael I Haas, Stefan A Stankiewicz, Pawel Cheung, Sau Wai Baxendale, Anne Nicholl, Jillian Thompson, Elizabeth M Haan, Eric Kalscheuer, Vera M Gecz, Jozef Producer: 20160920 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	191.	Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. [electronic resource] by Geisheker, Madeleine R Heymann, Gabriel Wang, Tianyun Coe, Bradley P Turner, Tychele N Stessman, Holly A F Hoekzema, Kendra Kvarnung, Malin Shaw, Marie Friend, Kathryn Liebelt, Jan Barnett, Christopher Thompson, Elizabeth M Haan, Eric Guo, Hui Anderlid, Britt-Marie Nordgren, Ann Lindstrand, Anna Vandeweyer, Geert Alberti, Antonino Avola, Emanuela Vinci, Mirella Giusto, Stefania Pramparo, Tiziano Pierce, Karen Nalabolu, Srinivasa Michaelson, Jacob J Sedlacek, Zdenek Santen, Gijs W E Peeters, Hilde Hakonarson, Hakon Courchesne, Eric Romano, Corrado Kooy, R Frank Bernier, Raphael A Nordenskjöld, Magnus Gecz, Jozef Xia, Kun Zweifel, Larry S Eichler, Evan E Producer: 20170905 In: Nature neuroscience vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	192.	De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. [electronic resource] by Reijnders, Margot R F Zachariadis, Vasilios Latour, Brooke Jolly, Lachlan Mancini, Grazia M Pfundt, Rolph Wu, Ka Man van Ravenswaaij-Arts, Conny M A Veenstra-Knol, Hermine E Anderlid, Britt-Marie M Wood, Stephen A Cheung, Sau Wai Barnicoat, Angela Probst, Frank Magoulas, Pilar Brooks, Alice S Malmgren, Helena Harila-Saari, Arja Marcelis, Carlo M Vreeburg, Maaike Hobson, Emma Sutton, V Reid Stark, Zornitza Vogt, Julie Cooper, Nicola Lim, Jiin Ying Price, Sue Lai, Angeline Hwei Meeng Domingo, Deepti Reversade, Bruno Gecz, Jozef Gilissen, Christian Brunner, Han G Kini, Usha Roepman, Ronald Nordgren, Ann Kleefstra, Tjitske Producer: 20160622 In: American journal of human genetics vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	193.	A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene. [electronic resource] by Jensen, Lars R Garrett, Lillian Hölter, Sabine M Rathkolb, Birgit Rácz, Ildikó Adler, Thure Prehn, Cornelia Hans, Wolfgang Rozman, Jan Becker, Lore Aguilar-Pimentel, Juan Antonio Puk, Oliver Moreth, Kristin Dopatka, Monika Walther, Diego J von Bohlen Und Halbach, Viola Rath, Matthias Delatycki, Martin Bert, Bettina Fink, Heidrun Blümlein, Katharina Ralser, Markus Van Dijck, Anke Kooy, Frank Stark, Zornitza Müller, Sabine Scherthan, Harry Gecz, Jozef Wurst, Wolfgang Wolf, Eckhard Zimmer, Andreas Klingenspor, Martin Graw, Jochen Klopstock, Thomas Busch, Dirk Adamski, Jerzy Fuchs, Helmut Gailus-Durner, Valérie de Angelis, Martin Hrabě von Bohlen Und Halbach, Oliver Ropers, Hans-Hilger Kuss, Andreas W Producer: 20200427 In: Biochimica et biophysica acta. Molecular basis of disease vol. 1865 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	194.	Mutations in DEPDC5 cause familial focal epilepsy with variable foci. [electronic resource] by Dibbens, Leanne M de Vries, Boukje Donatello, Simona Heron, Sarah E Hodgson, Bree L Chintawar, Satyan Crompton, Douglas E Hughes, James N Bellows, Susannah T Klein, Karl Martin Callenbach, Petra M C Corbett, Mark A Gardner, Alison E Kivity, Sara Iona, Xenia Regan, Brigid M Weller, Claudia M Crimmins, Denis O'Brien, Terence J Guerrero-López, Rosa Mulley, John C Dubeau, Francois Licchetta, Laura Bisulli, Francesca Cossette, Patrick Thomas, Paul Q Gecz, Jozef Serratosa, Jose Brouwer, Oebele F Andermann, Frederick Andermann, Eva van den Maagdenberg, Arn M J M Pandolfo, Massimo Berkovic, Samuel F Scheffer, Ingrid E Producer: 20130618 In: Nature genetics vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	195.	Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. [electronic resource] by Field, Michael Tarpey, Patrick S Smith, Raffaella Edkins, Sarah O'Meara, Sarah Stevens, Claire Tofts, Calli Teague, Jon Butler, Adam Dicks, Ed Barthorpe, Syd Buck, Gemma Cole, Jennifer Gray, Kristian Halliday, Kelly Hills, Katy Jenkinson, Andrew Jones, David Menzies, Andrew Mironenko, Tatiana Perry, Janet Raine, Keiran Richardson, David Shepherd, Rebecca Small, Alexandra Varian, Jennifer West, Sofie Widaa, Sara Mallya, Uma Wooster, Richard Moon, Jenny Luo, Ying Hughes, Helen Shaw, Marie Friend, Kathryn L Corbett, Mark Turner, Gillian Partington, Michael Mulley, John Bobrow, Martin Schwartz, Charles Stevenson, Roger Gecz, Jozef Stratton, Michael R Futreal, P Andrew Raymond, F Lucy Producer: 20070921 In: American journal of human genetics vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	196.	ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity. [electronic resource] by Hirata, Hiromi Nanda, Indrajit van Riesen, Anne McMichael, Gai Hu, Hao Hambrock, Melanie Papon, Marie-Amélie Fischer, Ute Marouillat, Sylviane Ding, Can Alirol, Servane Bienek, Melanie Preisler-Adams, Sabine Grimme, Astrid Seelow, Dominik Webster, Richard Haan, Eric MacLennan, Alastair Stenzel, Werner Yap, Tzu Ying Gardner, Alison Nguyen, Lam Son Shaw, Marie Lebrun, Nicolas Haas, Stefan A Kress, Wolfram Haaf, Thomas Schellenberger, Elke Chelly, Jamel Viot, Géraldine Shaffer, Lisa G Rosenfeld, Jill A Kramer, Nancy Falk, Rena El-Khechen, Dima Escobar, Luis F Hennekam, Raoul Wieacker, Peter Hübner, Christoph Ropers, Hans-Hilger Gecz, Jozef Schuelke, Markus Laumonnier, Frédéric Kalscheuer, Vera M Producer: 20130705 In: American journal of human genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	197.	A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations. [electronic resource] by Palmer, Elizabeth E Kumar, Raman Gordon, Christopher T Shaw, Marie Hubert, Laurence Carroll, Renee Rio, Marlène Murray, Lucinda Leffler, Melanie Dudding-Byth, Tracy Oufadem, Myriam Lalani, Seema R Lewis, Andrea M Xia, Fan Tam, Allison Webster, Richard Brammah, Susan Filippini, Francesca Pollard, John Spies, Judy Minoche, Andre E Cowley, Mark J Risen, Sarah Powell-Hamilton, Nina N Tusi, Jessica E Immken, LaDonna Nagakura, Honey Bole-Feysot, Christine Nitschké, Patrick Garrigue, Alexandrine de Saint Basile, Geneviève Kivuva, Emma Scott, Richard H Rendon, Augusto Munnich, Arnold Newman, William Kerr, Bronwyn Besmond, Claude Rosenfeld, Jill A Amiel, Jeanne Field, Michael Gecz, Jozef Producer: 20180102 In: American journal of human genetics vol. 101 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	198.	Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. [electronic resource] by Frints, Suzanna G M Ozanturk, Aysegul Rodríguez Criado, Germán Grasshoff, Ute de Hoon, Bas Field, Michael Manouvrier-Hanu, Sylvie E Hickey, Scott Kammoun, Molka Gripp, Karen W Bauer, Claudia Schroeder, Christopher Toutain, Annick Mihalic Mosher, Theresa Kelly, Benjamin J White, Peter Dufke, Andreas Rentmeester, Eveline Moon, Sungjin Koboldt, Daniel C van Roozendaal, Kees E P Hu, Hao Haas, Stefan A Ropers, Hans-Hilger Murray, Lucinda Haan, Eric Shaw, Marie Carroll, Renee Friend, Kathryn Liebelt, Jan Hobson, Lynne De Rademaeker, Marjan Geraedts, Joep Fryns, Jean-Pierre Vermeesch, Joris Raynaud, Martine Riess, Olaf Gribnau, Joost Katsanis, Nicholas Devriendt, Koen Bauer, Peter Gecz, Jozef Golzio, Christelle Gontan, Cristina Kalscheuer, Vera M Producer: 20200504 In: Molecular psychiatry vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	199.	Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. [electronic resource] by McLarren, Keith W Severson, Tesa M du Souich, Christèle Stockton, David W Kratz, Lisa E Cunningham, David Hendson, Glenda Morin, Ryan D Wu, Diane Paul, Jessica E An, Jianghong Nelson, Tanya N Chou, Athena DeBarber, Andrea E Merkens, Louise S Michaud, Jacques L Waters, Paula J Yin, Jingyi McGillivray, Barbara Demos, Michelle Rouleau, Guy A Grzeschik, Karl-Heinz Smith, Raffaella Tarpey, Patrick S Shears, Debbie Schwartz, Charles E Gecz, Jozef Stratton, Michael R Arbour, Laura Hurlburt, Jane Van Allen, Margot I Herman, Gail E Zhao, Yongjun Moore, Richard Kelley, Richard I Jones, Steven J M Steiner, Robert D Raymond, F Lucy Marra, Marco A Boerkoel, Cornelius F Producer: 20110118 In: American journal of human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	200.	Refining analyses of copy number variation identifies specific genes associated with developmental delay. [electronic resource] by Coe, Bradley P Witherspoon, Kali Rosenfeld, Jill A van Bon, Bregje W M Vulto-van Silfhout, Anneke T Bosco, Paolo Friend, Kathryn L Baker, Carl Buono, Serafino Vissers, Lisenka E L M Schuurs-Hoeijmakers, Janneke H Hoischen, Alex Pfundt, Rolph Krumm, Nik Carvill, Gemma L Li, Deana Amaral, David Brown, Natasha Lockhart, Paul J Scheffer, Ingrid E Alberti, Antonino Shaw, Marie Pettinato, Rosa Tervo, Raymond de Leeuw, Nicole Reijnders, Margot R F Torchia, Beth S Peeters, Hilde O'Roak, Brian J Fichera, Marco Hehir-Kwa, Jayne Y Shendure, Jay Mefford, Heather C Haan, Eric Gécz, Jozef de Vries, Bert B A Romano, Corrado Eichler, Evan E Producer: 20141215 In: Nature genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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