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	161.	COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. [electronic resource] by Phillips-Krawczak, Christine A Singla, Amika Starokadomskyy, Petro Deng, Zhihui Osborne, Douglas G Li, Haiying Dick, Christopher J Gomez, Timothy S Koenecke, Megan Zhang, Jin-San Dai, Haiming Sifuentes-Dominguez, Luis F Geng, Linda N Kaufmann, Scott H Hein, Marco Y Wallis, Mathew McGaughran, Julie Gecz, Jozef Sluis, Bart van de Billadeau, Daniel D Burstein, Ezra Producer: 20150817 In: Molecular biology of the cell vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	162.	Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. [electronic resource] by Lugtenberg, Dorien Kleefstra, Tjitske Oudakker, Astrid R Nillesen, Willy M Yntema, Helger G Tzschach, Andreas Raynaud, Martine Rating, Dietz Journel, Hubert Chelly, Jamel Goizet, Cyril Lacombe, Didier Pedespan, Jean-Michel Echenne, Bernard Tariverdian, Gholamali O'Rourke, Declan King, Mary D Green, Andrew van Kogelenberg, Margriet Van Esch, Hilde Gecz, Jozef Hamel, Ben C J van Bokhoven, Hans de Brouwer, Arjan P M Producer: 20090508 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	163.	SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. [electronic resource] by Gilfillan, Gregor D Selmer, Kaja K Roxrud, Ingrid Smith, Raffaella Kyllerman, Mårten Eiklid, Kristin Kroken, Mette Mattingsdal, Morten Egeland, Thore Stenmark, Harald Sjøholm, Hans Server, Andres Samuelsson, Lena Christianson, Arnold Tarpey, Patrick Whibley, Annabel Stratton, Michael R Futreal, P Andrew Teague, Jon Edkins, Sarah Gecz, Jozef Turner, Gillian Raymond, F Lucy Schwartz, Charles Stevenson, Roger E Undlien, Dag E Strømme, Petter Producer: 20080513 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)
	164.	Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder. [electronic resource] by Kumar, Raman Corbett, Mark A Smith, Nicholas J C Jolly, Lachlan A Tan, Chuan Keating, Damien J Duffield, Michael D Utsumi, Toshihiko Moriya, Koko Smith, Katherine R Hoischen, Alexander Abbott, Kim Harbord, Michael G Compton, Alison G Woenig, Joshua A Arts, Peer Kwint, Michael Wieskamp, Nienke Gijsen, Sabine Veltman, Joris A Bahlo, Melanie Gleeson, Joseph G Haan, Eric Gecz, Jozef Producer: 20160113 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	165.	HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study. [electronic resource] by Friez, Michael J Brooks, Susan Sklower Stevenson, Roger E Field, Michael Basehore, Monica J Adès, Lesley C Sebold, Courtney McGee, Stephen Saxon, Samantha Skinner, Cindy Craig, Maria E Murray, Lucy Simensen, Richard J Yap, Ying Yzu Shaw, Marie A Gardner, Alison Corbett, Mark Kumar, Raman Bosshard, Matthias van Loon, Barbara Tarpey, Patrick S Abidi, Fatima Gecz, Jozef Schwartz, Charles E Producer: 20161229 In: BMJ open vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	166.	Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. [electronic resource] by Mucha, Bettina E Banka, Siddharth Ajeawung, Norbert Fonya Molidperee, Sirinart Chen, Gary G Koenig, Mary Kay Adejumo, Rhamat B Till, Marianne Harbord, Michael Perrier, Renee Lemyre, Emmanuelle Boucher, Renee-Myriam Skotko, Brian G Waxler, Jessica L Thomas, Mary Ann Hodge, Jennelle C Gecz, Jozef Nicholl, Jillian McGregor, Lesley Linden, Tobias Sisodiya, Sanjay M Sanlaville, Damien Cheung, Sau W Ernst, Carl Campeau, Philippe M Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Sep 2019 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	167.	A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. [electronic resource] by Mucha, Bettina E Banka, Siddharth Ajeawung, Norbert Fonya Molidperee, Sirinart Chen, Gary G Koenig, Mary Kay Adejumo, Rhamat B Till, Marianne Harbord, Michael Perrier, Renee Lemyre, Emmanuelle Boucher, Renee-Myriam Skotko, Brian G Waxler, Jessica L Thomas, Mary Ann Hodge, Jennelle C Gecz, Jozef Nicholl, Jillian McGregor, Lesley Linden, Tobias Sisodiya, Sanjay M Sanlaville, Damien Cheung, Sau W Ernst, Carl Campeau, Philippe M Producer: 20190903 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	168.	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. [electronic resource] by Heron, Sarah E Grinton, Bronwyn E Kivity, Sara Afawi, Zaid Zuberi, Sameer M Hughes, James N Pridmore, Clair Hodgson, Bree L Iona, Xenia Sadleir, Lynette G Pelekanos, James Herlenius, Eric Goldberg-Stern, Hadassa Bassan, Haim Haan, Eric Korczyn, Amos D Gardner, Alison E Corbett, Mark A Gécz, Jozef Thomas, Paul Q Mulley, John C Berkovic, Samuel F Scheffer, Ingrid E Dibbens, Leanne M Producer: 20120312 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	169.	Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. [electronic resource] by Henden, Lyndal Freytag, Saskia Afawi, Zaid Baldassari, Sara Berkovic, Samuel F Bisulli, Francesca Canafoglia, Laura Casari, Giorgio Crompton, Douglas Ewan Depienne, Christel Gecz, Jozef Guerrini, Renzo Helbig, Ingo Hirsch, Edouard Keren, Boris Klein, Karl Martin Labauge, Pierre LeGuern, Eric Licchetta, Laura Mei, Davide Nava, Caroline Pippucci, Tommaso Rudolf, Gabrielle Scheffer, Ingrid Eileen Striano, Pasquale Tinuper, Paolo Zara, Federico Corbett, Mark Bahlo, Melanie Producer: 20170519 In: Human genetics vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	170.	Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. [electronic resource] by Kumar, Raman Palmer, Elizabeth Gardner, Alison E Carroll, Renee Banka, Siddharth Abdelhadi, Ola Donnai, Dian Elgersma, Ype Curry, Cynthia J Gardham, Alice Suri, Mohnish Malla, Rishikesh Brady, Lauren Ilana Tarnopolsky, Mark Azmanov, Dimitar N Atkinson, Vanessa Black, Michael Baynam, Gareth Dreyer, Lauren Hayeems, Robin Z Marshall, Christian R Costain, Gregory Wessels, Marja W Baptista, Julia Drummond, James Leffler, Melanie Field, Michael Gecz, Jozef Publication details: Frontiers in molecular neuroscience 2020 In: Frontiers in molecular neuroscience vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	171.	Epilepsy and mental retardation limited to females: an under-recognized disorder. [electronic resource] by Scheffer, Ingrid E Turner, Samantha J Dibbens, Leanne M Bayly, Marta A Friend, Kathryn Hodgson, Bree Burrows, Linda Shaw, Marie Wei, Chen Ullmann, Reinhard Ropers, Hans-Hilger Szepetowski, Pierre Haan, Eric Mazarib, Aziz Afawi, Zaid Neufeld, Miriam Y Andrews, P Ian Wallace, Geoffrey Kivity, Sara Lev, Dorit Lerman-Sagie, Tally Derry, Christopher P Korczyn, Amos D Gecz, Jozef Mulley, John C Berkovic, Samuel F Producer: 20080508 In: Brain : a journal of neurology vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	172.	MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. [electronic resource] by Frints, Suzanna Gerarda Maria Lenzner, Steffen Bauters, Mareike Jensen, Lars Riff Van Esch, Hilde des Portes, Vincent Moog, Ute Macville, Merryn Victor Erik van Roozendaal, Kees Schrander-Stumpel, Constance Theresia Rimbertha Maria Tzschach, Andreas Marynen, Peter Fryns, Jean-Pierre Hamel, Ben van Bokhoven, Hans Chelly, Jamel Beldjord, Chérif Turner, Gillian Gecz, Jozef Moraine, Claude Raynaud, Martine Ropers, Hans Hilger Froyen, Guy Kuss, Andreas Walter Producer: 20081020 In: European journal of human genetics : EJHG vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	173.	Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. [electronic resource] by Ali, Asif Christie, Paul T Grigorieva, Irina V Harding, Brian Van Esch, Hilde Ahmed, S Faisal Bitner-Glindzicz, Maria Blind, Eberhard Bloch, Catherine Christin, Patricia Clayton, Peter Gecz, Jozef Gilbert-Dussardier, Brigitte Guillen-Navarro, Encarna Hackett, Anna Halac, Isil Hendy, Geoffrey N Lalloo, Fiona Mache, Christoph J Mughal, Zulf Ong, Albert C M Rinat, Choni Shaw, Nicholas Smithson, Sarah F Tolmie, John Weill, Jacques Nesbit, M Andrew Thakker, Rajesh V Producer: 20070426 In: Human molecular genetics vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	174.	Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. [electronic resource] by MacLennan, Alastair H Lewis, Sara Moreno-De-Luca, Andres Fahey, Michael Leventer, Richard J McIntyre, Sarah Ben-Pazi, Hilla Corbett, Mark Wang, Xiaoyang Baynam, Gareth Fehlings, Darcy Kurian, Manju A Zhu, Changlian Himmelmann, Kate Smithers-Sheedy, Hayley Wilson, Yana Ocaña, Carlos Santos van Eyk, Clare Badawi, Nadia Wintle, Richard F Jacobsson, Bo Amor, David J Mallard, Carina Pérez-Jurado, Luis A Hallman, Mikko Rosenbaum, Peter J Kruer, Michael C Gecz, Jozef Producer: 20200622 In: Journal of child neurology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	175.	Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. [electronic resource] by Tarpey, Patrick Parnau, Josep Blow, Matthew Woffendin, Hayley Bignell, Graham Cox, Charles Cox, James Davies, Helen Edkins, Sarah Holden, Simon Korny, Angelique Mallya, Uma Moon, Jenny O'Meara, Sarah Parker, Adrian Stephens, Philip Stevens, Claire Teague, Jon Donnelly, Andrew Mangelsdorf, Marie Mulley, John Partington, Michael Turner, Gillian Stevenson, Roger Schwartz, Charles Young, Ian Easton, Douglas Bobrow, Martin Futreal, P Andrew Stratton, Michael R Gecz, Jozef Wooster, Richard Raymond, F Lucy Producer: 20040920 In: American journal of human genetics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	176.	PHF6 regulates hematopoietic stem and progenitor cells and its loss synergizes with expression of TLX3 to cause leukemia. [electronic resource] by McRae, Helen M Garnham, Alexandra L Hu, Yifang Witkowski, Matthew T Corbett, Mark A Dixon, Mathew P May, Rose E Sheikh, Bilal N Chiang, William Kueh, Andrew J Nguyen, Tan A Man, Kevin Gloury, Renee Aubrey, Brandon J Policheni, Antonia Di Rago, Ladina Alexander, Warren S Gray, Daniel H D Strasser, Andreas Hawkins, Edwin D Wilcox, Stephen Gécz, Jozef Kallies, Axel McCormack, Matthew P Smyth, Gordon K Voss, Anne K Thomas, Tim Producer: 20191223 In: Blood vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	177.	Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation. [electronic resource] by Hildebrand, Michael S Jackson, Victoria E Scerri, Thomas S Van Reyk, Olivia Coleman, Matthew Braden, Ruth O Turner, Samantha Rigbye, Kristin A Boys, Amber Barton, Sarah Webster, Richard Fahey, Michael Saunders, Kerryn Parry-Fielder, Bronwyn Paxton, Georgia Hayman, Michael Coman, David Goel, Himanshu Baxter, Anne Ma, Alan Davis, Noni Reilly, Sheena Delatycki, Martin Liégeois, Frederique J Connelly, Alan Gecz, Jozef Fisher, Simon E Amor, David J Scheffer, Ingrid E Bahlo, Melanie Morgan, Angela T Producer: 20200903 In: Neurology vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	178.	Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. [electronic resource] by Kalscheuer, Vera M Freude, Kristine Musante, Luciana Jensen, Lars R Yntema, Helger G Gécz, Jozef Sefiani, Abdelaziz Hoffmann, Kirsten Moser, Bettina Haas, Stefan Gurok, Ulf Haesler, Sebastian Aranda, Beatriz Nshedjan, Arpik Tzschach, Andreas Hartmann, Nils Roloff, Tim-Christoph Shoichet, Sarah Hagens, Olivier Tao, Jiong Van Bokhoven, Hans Turner, Gillian Chelly, Jamel Moraine, Claude Fryns, Jean-Pierre Nuber, Ulrike Hoeltzenbein, Maria Scharff, Constance Scherthan, Harry Lenzner, Steffen Hamel, Ben C J Schweiger, Susann Ropers, Hans-Hilger Producer: 20040105 In: Nature genetics vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	179.	Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery. [electronic resource] by Kumar, Raman Gardner, Alison Homan, Claire C Douglas, Evelyn Mefford, Heather Wieczorek, Dagmar Lüdecke, Hermann-Josef Stark, Zornitza Sadedin, Simon Nowak, Catherine Bearce Douglas, Jessica Parsons, Gretchen Mark, Paul Loidi, Lourdes Herman, Gail E Mihalic Mosher, Theresa Gillespie, Meredith K Brady, Lauren Tarnopolsky, Mark Madrigal, Irene Eiris, Jesús Domènech Salgado, Laura Rabionet, Raquel Strom, Tim M Ishihara, Naoko Inagaki, Hidehito Kurahashi, Hiroki Dudding-Byth, Tracy Palmer, Elizabeth E Field, Michael Gecz, Jozef Producer: 20190715 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	180.	'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. [electronic resource] by Boissé Lomax, Lysa Bayly, Marta A Hjalgrim, Helle Møller, Rikke S Vlaar, Annemarie M Aaberg, Kari M Marquardt, Iris Gandolfo, Luke C Willemsen, Michèl Kamsteeg, Erik-Jan O'Sullivan, John D Korenke, G Christoph Bloem, Bastiaan R de Coo, Irenaeus F Verhagen, Judith M A Said, Ines Prescott, Trine Stray-Pedersen, Asbjørg Rasmussen, Magnhild Vears, Danya F Lehesjoki, Anna-Elina Corbett, Mark A Bahlo, Melanie Gecz, Jozef Dibbens, Leanne M Berkovic, Samuel F Producer: 20130530 In: Brain : a journal of neurology vol. 136 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 222 results.