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	101.	Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. [electronic resource] by Froyen, Guy Bauters, Marijke Boyle, Jackie Van Esch, Hilde Govaerts, Karen van Bokhoven, Hans Ropers, Hans-Hilger Moraine, Claude Chelly, Jamel Fryns, Jean-Pierre Marynen, Peter Gecz, Jozef Turner, Gillian Producer: 20071010 In: Human genetics vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	102.	Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. [electronic resource] by Van Esch, Hilde Bauters, Marijke Ignatius, Jaakko Jansen, Mieke Raynaud, Martine Hollanders, Karen Lugtenberg, Dorien Bienvenu, Thierry Jensen, Lars Riff Gecz, Jozef Moraine, Claude Marynen, Peter Fryns, Jean-Pierre Froyen, Guy Producer: 20060206 In: American journal of human genetics vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	103.	Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation. [electronic resource] by Rujirabanjerd, Sinitdhorn Nelson, John Tarpey, Patrick S Hackett, Anna Edkins, Sarah Raymond, F Lucy Schwartz, Charles E Turner, Gillian Iwase, Shigeki Shi, Yang Futreal, P Andrew Stratton, Michael R Gecz, Jozef Producer: 20100518 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	104.	Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. [electronic resource] by Molinari, Florence Foulquier, François Tarpey, Patrick S Morelle, Willy Boissel, Sarah Teague, Jon Edkins, Sarah Futreal, P Andrew Stratton, Michael R Turner, Gillian Matthijs, Gert Gecz, Jozef Munnich, Arnold Colleaux, Laurence Producer: 20080716 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)
	105.	Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay. [electronic resource] by Bruno, Ivone G Karam, Rachid Huang, Lulu Bhardwaj, Anjana Lou, Chih H Shum, Eleen Y Song, Hye-Won Corbett, Mark A Gifford, Wesley D Gecz, Jozef Pfaff, Samuel L Wilkinson, Miles F Producer: 20110804 In: Molecular cell vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	106.	None [electronic resource] by Selvan, Nithya George, Stephan Serajee, Fatema J Shaw, Marie Hobson, Lynne Kalscheuer, Vera Prasad, Nripesh Levy, Shawn E Taylor, Juliet Aftimos, Salim Schwartz, Charles E Huq, Ahm M Gecz, Jozef Wells, Lance Producer: 20190208 In: The Journal of biological chemistry vol. 293 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	107.	FOXP1 mutations cause intellectual disability and a recognizable phenotype. [electronic resource] by Le Fevre, Anna K Taylor, Sharelle Malek, Neva H Horn, Denise Carr, Christopher W Abdul-Rahman, Omar A O'Donnell, Sherindan Burgess, Trent Shaw, Marie Gecz, Jozef Bain, Nicole Fagan, Kerry Hunter, Matthew F Producer: 20140702 In: American journal of medical genetics. Part A vol. 161A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	108.	A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. [electronic resource] by Khayat, Wujood Hackett, Anna Shaw, Marie Ilie, Alina Dudding-Byth, Tracy Kalscheuer, Vera M Christie, Louise Corbett, Mark A Juusola, Jane Friend, Kathryn L Kirmse, Brian M Gecz, Jozef Field, Michael Orlowski, John Producer: 20190621 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	109.	Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. [electronic resource] by Kalscheuer, Vera M Tao, Jiong Donnelly, Andrew Hollway, Georgina Schwinger, Eberhard Kübart, Sabine Menzel, Corinna Hoeltzenbein, Maria Tommerup, Niels Eyre, Helen Harbord, Michael Haan, Eric Sutherland, Grant R Ropers, Hans-Hilger Gécz, Jozef Producer: 20030722 In: American journal of human genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	110.	HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. [electronic resource] by Jolly, Lachlan A Nguyen, Lam Son Domingo, Deepti Sun, Ying Barry, Simon Hancarova, Miroslava Plevova, Pavlina Vlckova, Marketa Havlovicova, Marketa Kalscheuer, Vera M Graziano, Claudio Pippucci, Tommaso Bonora, Elena Sedlacek, Zdenek Gecz, Jozef Producer: 20160204 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	111.	Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy. [electronic resource] by Pederick, Daniel T Richards, Kay L Piltz, Sandra G Kumar, Raman Mincheva-Tasheva, Stefka Mandelstam, Simone A Dale, Russell C Scheffer, Ingrid E Gecz, Jozef Petrou, Steven Hughes, James N Thomas, Paul Q Producer: 20190705 In: Neuron vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	112.	Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment. [electronic resource] by Quartier, Angélique Courraud, Jérémie Thi Ha, Thuong McGillivray, George Isidor, Bertrand Rose, Katherine Drouot, Nathalie Savidan, Marie-Armel Feger, Claire Jagline, Hélène Chelly, Jamel Shaw, Marie Laumonnier, Frédéric Gecz, Jozef Mandel, Jean-Louis Piton, Amélie Producer: 20200309 In: Human mutation vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	113.	An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase. [electronic resource] by Pravata, Veronica M Omelková, Michaela Stavridis, Marios P Desbiens, Chelsea M Stephen, Hannah M Lefeber, Dirk J Gecz, Jozef Gundogdu, Mehmet Õunap, Katrin Joss, Shelagh Schwartz, Charles E Wells, Lance van Aalten, Daan M F 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)
	114.	Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. [electronic resource] by Srivastava, Siddharth Niranjan, Tejasvi May, Melanie M Tarpey, Patrick Allen, William Hackett, Anna Jouk, Pierre-Simon Raymond, Lucy Briault, Slyvain Skinner, Cindy Toutain, Annick Gecz, Jozef Heath, William Stevenson, Roger E Schwartz, Charles E Wang, Tao Producer: 20190521 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	115.	Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. [electronic resource] by Freude, Kristine Hoffmann, Kirsten Jensen, Lars-Riff Delatycki, Martin B des Portes, Vincent Moser, Bettina Hamel, Ben van Bokhoven, Hans Moraine, Claude Fryns, Jean-Pierre Chelly, Jamel Gécz, Jozef Lenzner, Steffen Kalscheuer, Vera M Ropers, Hans-Hilger 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)
	116.	Identification and characterization of a missense mutation in the [electronic resource] by Vaidyanathan, Krithika Niranjan, Tejasvi Selvan, Nithya Teo, Chin Fen May, Melanie Patel, Sneha Weatherly, Brent Skinner, Cindy Opitz, John Carey, John Viskochil, David Gecz, Jozef Shaw, Marie Peng, Yunhui Alexov, Emil Wang, Tao Schwartz, Charles Wells, Lance Producer: 20170609 In: The Journal of biological chemistry vol. 292 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	117.	Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. [electronic resource] by Smogavec, Mateja Cleall, Alison Hoyer, Juliane Lederer, Damien Nassogne, Marie-Cécile Palmer, Elizabeth E Deprez, Marie Benoit, Valérie Maystadt, Isabelle Noakes, Charlotte Leal, Alejandro Shaw, Marie Gecz, Jozef Raymond, Lucy Reis, André Shears, Deborah Brockmann, Knut Zweier, Christiane Producer: 20170825 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	118.	Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations. [electronic resource] by Corbett, Mark A Turner, Samantha J Gardner, Alison Silver, Jeremy Stankovich, Jim Leventer, Richard J Derry, Christopher P Carroll, Renée Ha, Thuong Scheffer, Ingrid E Bahlo, Melanie Jackson, Graeme D Mackey, David A Berkovic, Samuel F Gecz, Jozef Producer: 20171012 In: European journal of medical genetics vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	119.	FRA2A is a CGG repeat expansion associated with silencing of AFF3. [electronic resource] by Metsu, Sofie Rooms, Liesbeth Rainger, Jacqueline Taylor, Martin S Bengani, Hemant Wilson, David I Chilamakuri, Chandra Sekhar Reddy Morrison, Harris Vandeweyer, Geert Reyniers, Edwin Douglas, Evelyn Thompson, Geoffrey Haan, Eric Gecz, Jozef Fitzpatrick, David R Kooy, R Frank Producer: 20141124 In: PLoS genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	120.	A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. [electronic resource] by Corbett, Mark A Bahlo, Melanie Jolly, Lachlan Afawi, Zaid Gardner, Alison E Oliver, Karen L Tan, Stanley Coffey, Amy Mulley, John C Dibbens, Leanne M Simri, Walid Shalata, Adel Kivity, Sara Jackson, Graeme D Berkovic, Samuel F Gecz, Jozef Producer: 20101007 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)

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Your search returned 222 results.