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	121.	Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. [electronic resource] by Jaeckle Santos, Lane J Xing, Chao Barnes, Robert B Ades, Lesley C Megarbane, Andre Vidal, Christopher Xuereb, Angela Tarpey, Patrick S Smith, Raffaella Khazab, Mahmoud Shoubridge, Cheryl Partington, Michael Futreal, Andrew Stratton, Michael R Gecz, Jozef Zinn, Andrew R Producer: 20080609 In: Human genetics vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	122.	Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus? [electronic resource] by Rigbye, Kristin A van Hasselt, Peter M Burgess, Rosemary Damiano, John A Mullen, Saul A Petrovski, Slavé Puranam, Ram S van Gassen, Koen L I Gecz, Jozef Scheffer, Ingrid E McNamara, James O Berkovic, Samuel F Hildebrand, Michael S Producer: 20180102 In: Epilepsy research vol. 128 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	123.	Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. [electronic resource] by White, Rose Ho, Gladys Schmidt, Swetlana Scheffer, Ingrid E Fischer, Alexandra Yendle, Simone C Bienvenu, Thierry Nectoux, Juliette Ellaway, Carolyn J Darmanian, Artur Tong, XingZhang Cloosterman, Desiree Bennetts, Bruce Kalra, Veena Fullston, Tod Gecz, Jozef Cox, Timothy C Christodoulou, John Producer: 20100804 In: Twin research and human genetics : the official journal of the International Society for Twin Studies vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	124.	Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. [electronic resource] by Corbett, Mark A van Eyk, Clare L Webber, Dani L Bent, Stephen J Newman, Morgan Harper, Kelly Berry, Jesia G Azmanov, Dimitar N Woodward, Karen J Gardner, Alison E Slee, Jennie Pérez-Jurado, Luís A MacLennan, Alastair H Gecz, Jozef Publication details: NPJ genomic medicine 2019 In: NPJ genomic medicine vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	125.	Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. [electronic resource] by Scheffer, Ingrid E Heron, Sarah E Regan, Brigid M Mandelstam, Simone Crompton, Douglas E Hodgson, Bree L Licchetta, Laura Provini, Federica Bisulli, Francesca Vadlamudi, Lata Gecz, Jozef Connelly, Alan Tinuper, Paolo Ricos, Michael G Berkovic, Samuel F Dibbens, Leanne M Producer: 20140811 In: Annals of neurology vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	126.	Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. [electronic resource] by Corbett, Mark A van Eyk, Clare L Webber, Dani L Bent, Stephen J Newman, Morgan Harper, Kelly Berry, Jesia G Azmanov, Dimitar N Woodward, Karen J Gardner, Alison E Slee, Jennie Pérez-Jurado, Luís A MacLennan, Alastair H Gecz, Jozef Publication details: NPJ genomic medicine 2018 In: NPJ genomic medicine vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	127.	CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling. [electronic resource] by Starokadomskyy, Petro Gluck, Nathan Li, Haiying Chen, Baozhi Wallis, Mathew Maine, Gabriel N Mao, Xicheng Zaidi, Iram W Hein, Marco Y McDonald, Fiona J Lenzner, Steffen Zecha, Agnes Ropers, Hans-Hilger Kuss, Andreas W McGaughran, Julie Gecz, Jozef Burstein, Ezra Producer: 20130702 In: The Journal of clinical investigation vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	128.	Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders. [electronic resource] by Poeta, Loredana Padula, Agnese Attianese, Benedetta Valentino, Mariaelena Verrillo, Lucia Filosa, Stefania Shoubridge, Cheryl Barra, Adriano Schwartz, Charles E Christensen, Jesper van Bokhoven, Hans Helin, Kristian Lioi, Maria Brigida Collombat, Patrick Gecz, Jozef Altucci, Lucia Di Schiavi, Elia Miano, Maria Giuseppina Producer: 20200623 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	129.	Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. [electronic resource] by Weaving, Linda S Christodoulou, John Williamson, Sarah L Friend, Kathie L McKenzie, Olivia L D Archer, Hayley Evans, Julie Clarke, Angus Pelka, Gregory J Tam, Patrick P L Watson, Catherine Lahooti, Hooshang Ellaway, Carolyn J Bennetts, Bruce Leonard, Helen Gécz, Jozef Producer: 20050204 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)
	130.	Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. [electronic resource] by Kousoulidou, Ludmila Parkel, Sven Zilina, Olga Palta, Priit Puusepp, Helen Remm, Maido Turner, Gillian Boyle, Jackie van Bokhoven, Hans de Brouwer, Arjan Van Esch, Hilde Froyen, Guy Ropers, Hans-Hilger Chelly, Jamel Moraine, Claude Gecz, Jozef Kurg, Ants Patsalis, Philippos C Producer: 20080311 In: European journal of medical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	131.	Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. [electronic resource] by Bennett, Mark F Oliver, Karen L Regan, Brigid M Bellows, Susannah T Schneider, Amy L Rafehi, Haloom Sikta, Neblina Crompton, Douglas E Coleman, Matthew Hildebrand, Michael S Corbett, Mark A Kroes, Thessa Gecz, Jozef Scheffer, Ingrid E Berkovic, Samuel F Bahlo, Melanie Producer: 20210527 In: European journal of human genetics : EJHG vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	132.	A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5C. [electronic resource] by Jensen, Lars R Bartenschlager, Heinz Rujirabanjerd, Sinitdhorn Tzschach, Andreas Nümann, Astrid Janecke, Andreas R Spörle, Ralf Stricker, Sigmar Raynaud, Martine Nelson, John Hackett, Anna Fryns, Jean-Pierre Chelly, Jamel de Brouwer, Arjan Pm Hamel, Ben Gecz, Jozef Ropers, Hans-Hilger Kuss, Andreas W Producer: 20110714 In: PathoGenetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	133.	MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. [electronic resource] by Donnio, Lise-Marie Bidon, Baptiste Hashimoto, Satoru May, Melanie Epanchintsev, Alexey Ryan, Colm Allen, William Hackett, Anna Gecz, Jozef Skinner, Cindy Stevenson, Roger E de Brouwer, Arjan P M Coutton, Charles Francannet, Christine Jouk, Pierre-Simon Schwartz, Charles E Egly, Jean-Marc Producer: 20171017 In: Human molecular genetics vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	134.	Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy. [electronic resource] by Corbett, Mark A Bellows, Susannah T Li, Melody Carroll, Renée Micallef, Silvana Carvill, Gemma L Myers, Candace T Howell, Katherine B Maljevic, Snezana Lerche, Holger Gazina, Elena V Mefford, Heather C Bahlo, Melanie Berkovic, Samuel F Petrou, Steven Scheffer, Ingrid E Gecz, Jozef Producer: 20170515 In: Neurology vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	135.	Chromatin-Binding Protein PHF6 Regulates Activity-Dependent Transcriptional Networks to Promote Hunger Response. [electronic resource] by Gan, Linhua Sun, Jingjing Yang, Shuo Zhang, Xiaocui Chen, Wu Sun, Yiyu Wu, Xiaohua Cheng, Cheng Yuan, Jing Li, Anan Corbett, Mark A Dixon, Mathew P Thomas, Tim Voss, Anne K Gécz, Jozef Wang, Guang-Zhong Bonni, Azad Li, Qian Huang, Ju Producer: 20210323 In: Cell reports vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	136.	Common genetic variants contribute to risk of rare severe neurodevelopmental disorders. [electronic resource] by Niemi, Mari E K Martin, Hilary C Rice, Daniel L Gallone, Giuseppe Gordon, Scott Kelemen, Martin McAloney, Kerrie McRae, Jeremy Radford, Elizabeth J Yu, Sui Gecz, Jozef Martin, Nicholas G Wright, Caroline F Fitzpatrick, David R Firth, Helen V Hurles, Matthew E Barrett, Jeffrey C Producer: 20190509 In: Nature vol. 562 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	137.	Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis. [electronic resource] by Ramos-Brossier, Mariana Montani, Caterina Lebrun, Nicolas Gritti, Laura Martin, Christelle Seminatore-Nole, Christine Toussaint, Aurelie Moreno, Sarah Poirier, Karine Dorseuil, Olivier Chelly, Jamel Hackett, Anna Gecz, Jozef Bieth, Eric Faudet, Anne Heron, Delphine Frank Kooy, R Loeys, Bart Humeau, Yann Sala, Carlo Billuart, Pierre Producer: 20150922 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	138.	Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. [electronic resource] by Hagens, Olivier Dubos, Aline Abidi, Fatima Barbi, Gotthold Van Zutven, Laura Hoeltzenbein, Maria Tommerup, Niels Moraine, Claude Fryns, Jean-Pierre Chelly, Jamel van Bokhoven, Hans Gécz, Jozef Dollfus, Hélène Ropers, Hans-Hilger Schwartz, Charles E de Cassia Stocco Dos Santos, Rita Kalscheuer, Vera Hanauer, André Producer: 20060522 In: Human genetics vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	139.	Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. [electronic resource] by Hynes, Kim Tarpey, Patrick Dibbens, Leanne M Bayly, Marta A Berkovic, Samuel F Smith, Raffaella Raisi, Zahyia Al Turner, Samantha J Brown, Natasha J Desai, Tarishi D Haan, Eric Turner, Gillian Christodoulou, John Leonard, Helen Gill, Deepak Stratton, Michael R Gecz, Jozef Scheffer, Ingrid E Producer: 20100617 In: Journal of medical genetics vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	140.	A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. [electronic resource] by Huang, Lingli Jolly, Lachlan A Willis-Owen, Saffron Gardner, Alison Kumar, Raman Douglas, Evelyn Shoubridge, Cheryl Wieczorek, Dagmar Tzschach, Andreas Cohen, Monika Hackett, Anna Field, Michael Froyen, Guy Hu, Hao Haas, Stefan A Ropers, Hans-Hilger Kalscheuer, Vera M Corbett, Mark A Gecz, Jozef Producer: 20130317 In: American journal of human genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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