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	61.	A novel locus for X-linked congenital cataract on Xq24. [electronic resource] by Craig, Jamie E Friend, Kathryn L Gecz, Jozef Rattray, Kate M Troski, Mark Mackey, David A Burdon, Kathryn P Producer: 20080609 In: Molecular vision vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	62.	Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. [electronic resource] by Shoubridge, Cheryl Tan, May Huey Fullston, Tod Cloosterman, Desiree Coman, David McGillivray, George Mancini, Grazia M Kleefstra, Tjitske Gécz, Jozef Producer: 20100211 In: PathoGenetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	63.	A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts. [electronic resource] by Ha, Thuong T Sadleir, Lynette G Mandelstam, Simone A Paterson, Sarah J Scheffer, Ingrid E Gecz, Jozef Corbett, Mark A Producer: 20161213 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	64.	FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure. [electronic resource] by Bensaid, Mounia Melko, Mireille Bechara, Elias G Davidovic, Laetitia Berretta, Antonio Catania, Maria Vincenza Gecz, Jozef Lalli, Enzo Bardoni, Barbara Producer: 20090406 In: Nucleic acids research vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	65.	Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity. [electronic resource] by Brookes, Emily Laurent, Benoit Õunap, Katrin Carroll, Renee Moeschler, John B Field, Michael Schwartz, Charles E Gecz, Jozef Shi, Yang Producer: 20160129 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	66.	NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy. [electronic resource] by McMichael, Gai Haan, Eric Gardner, Alison Yap, Tzu Ying Thompson, Suzanna Ouvrier, Robert Dale, Russell C Gecz, Jozef Maclennan, Alastair H Producer: 20140325 In: European journal of medical genetics vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	67.	Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1. [electronic resource] by Barnett, Christopher P Mencel, Justin J Gecz, Jozef Waters, Wendy Kirwin, Susan M Vinette, Kathy M B Uppill, Miriam Nicholl, Jillian Producer: 20130807 In: American journal of medical genetics. Part A vol. 158A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	68.	Nonsyndromic X-linked mental retardation: where are the missing mutations? [electronic resource] by Ropers, Hans-Hilger Hoeltzenbein, Maria Kalscheuer, Vera Yntema, Helger Hamel, Ben Fryns, Jean-Pierre Chelly, Jamel Partington, Michael Gecz, Jozef Moraine, Claude Producer: 20030807 In: Trends in genetics : TIG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	69.	Cerebral palsy and genomics: an international consortium. [electronic resource] by MacLennan, Alastair H Kruer, Michael C Baynam, Gareth Moreno-De-Luca, Andres Wilson, Yana A Zhu, Changlian Wintle, Richard F Gecz, Jozef Producer: 20180517 In: Developmental medicine and child neurology vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	70.	A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family. [electronic resource] by Burdon, Kathryn P Durkin, Shane R Burke, Mary Edwards, Matthew Pater, John Straga, Tania Gecz, Jozef Liebelt, Jan E Craig, Jamie E Producer: 20090617 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	71.	Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. [electronic resource] by Shaw, Marie Yap, Tzu Ying Henden, Lyndal Bahlo, Melanie Gardner, Alison Kalscheuer, Vera M Haan, Eric Christie, Louise Hackett, Anna Gecz, Jozef Producer: 20160304 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	72.	Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. [electronic resource] by Guy, Michael P Shaw, Marie Weiner, Catherine L Hobson, Lynne Stark, Zornitza Rose, Katherine Kalscheuer, Vera M Gecz, Jozef Phizicky, Eric M Producer: 20160819 In: Human mutation vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	73.	Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism. [electronic resource] by van Eyk, Clare L Corbett, Mark A Gardner, Alison van Bon, Bregje W Broadbent, Jessica L Harper, Kelly MacLennan, Alastair H Gecz, Jozef Producer: 20181211 In: Translational psychiatry vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	74.	1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family. [electronic resource] by Lower, Karen M Solders, Göran Bondeson, Marie-Louise Nelson, John Brun, Arne Crawford, Joanna Malm, Gunilla Börjeson, Mats Turner, Gillian Partington, Michael Gécz, Jozef Producer: 20050331 In: European journal of human genetics : EJHG vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	75.	Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. [electronic resource] by Zhu, Fuxi Wang, Fengsong Yang, Xiaoyu Zhang, Jingjing Wu, Huan Zhang, Zhou Zhang, Zhiguo He, Xiaojin Zhou, Ping Wei, Zhaolian Gecz, Jozef Cao, Yunxia Producer: 20170524 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	76.	Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform. [electronic resource] by Sharma, Shiwani Burdon, Kathryn P Dave, Alpana Jamieson, Robyn V Yaron, Yuval Billson, Frank Van Maldergem, Lionel Lorenz, Birgit Gécz, Jozef Craig, Jamie E Producer: 20081216 In: Molecular vision vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	77.	Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. [electronic resource] by Nguyen, Lam S Kim, Hyung-Goo Rosenfeld, Jill A Shen, Yiping Gusella, James F Lacassie, Yves Layman, Lawrence C Shaffer, Lisa G Gécz, Jozef Producer: 20131114 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	78.	Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome. [electronic resource] by Zhu, Fuxi Wang, Fengsong Yang, Xiaoyu Zhang, Jingjing Wu, Huan Zhang, Zhou Zhang, Zhiguo He, Xiaojin Zhou, Ping Wei, Zhaolian Gecz, Jozef Cao, Yunxia Publication details: American journal of human genetics 12 2016 In: American journal of human genetics vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	79.	Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. [electronic resource] by Mattioli, Francesca Isidor, Bertrand Abdul-Rahman, Omar Gunter, Andrew Huang, Lijia Kumar, Raman Beaulieu, Chandree Gecz, Jozef Innes, Micheil Mandel, Jean-Louis Piton, Amélie Producer: 20200309 In: Human molecular genetics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	80.	NHS-A isoform of the NHS gene is a novel interactor of ZO-1. [electronic resource] by Sharma, Shiwani Koh, Katrina S Y Collin, Caitlin Dave, Alpana McMellon, Amy Sugiyama, Yuki McAvoy, John W Voss, Anne K Gécz, Jozef Craig, Jamie E Producer: 20090811 In: Experimental cell research vol. 315 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.