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	4201.	Association of a homozygous nonsense mutation in the ABCA4 (ABCR) gene with cone-rod dystrophy phenotype in an Italian family. [electronic resource] by Simonelli, Francesca Testa, Francesco Zernant, Jana Nesti, Anna Rossi, Settimio Rinaldi, Ernesto Allikmets, Rando Producer: 20040415 In: Ophthalmic research vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4202.	Description of two new cathepsin C gene mutations in patients with Papillon-Lefèvre syndrome. [electronic resource] by Wani, Aijaz Ahmad Devkar, Nihal Patole, Milind S Shouche, Yogesh S Producer: 20060504 In: Journal of periodontology vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4203.	PYPAF1 nonsense mutation in a patient with an unusual autoinflammatory syndrome: role of PYPAF1 in inflammation. [electronic resource] by Jéru, I Hayrapetyan, H Duquesnoy, P Sarkisian, T Amselem, S Producer: 20060317 In: Arthritis and rheumatism vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4204.	Evidence for a functional genetic polymorphism of the human mercaptopyruvate sulfurtransferase (MPST), a cyanide detoxification enzyme. [electronic resource] by Billaut-Laden, Ingrid Rat, Emmanuel Allorge, Delphine Crunelle-Thibaut, Aurélie Cauffiez, Christelle Chevalier, Dany Lo-Guidice, Jean-Marc Broly, Franck Producer: 20060810 In: Toxicology letters vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4205.	A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. [electronic resource] by Tabolacci, Elisabetta Pomponi, M Grazia Pietrobono, Roberta Terracciano, Alessandra Chiurazzi, Pietro Neri, Giovanni Producer: 20060530 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4206.	A novel compound heterozygous mutation in Werner syndrome results in WRN transcript decay. [electronic resource] by Müller, F B Tsianakas, A Kuwert, C Korge, B P Hunzelmann, N Producer: 20050726 In: The British journal of dermatology vol. 152 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4207.	Dominant-negative interference with defence signalling by truncation mutations of the tomato Cf-9 disease resistance gene. [electronic resource] by Barker, Claire L Baillie, Brett K Hammond-Kosack, Kim E Jones, Jonathan D G Jones, David A Producer: 20060721 In: The Plant journal : for cell and molecular biology vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4208.	Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. [electronic resource] by Vieira, N M Schlesinger, D de Paula, F Vainzof, M Zatz, M Producer: 20070223 In: Neuromuscular disorders : NMD vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4209.	A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote. [electronic resource] by Barton, J C West, C Lee, P L Beutler, E Producer: 20050308 In: Clinical genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4210.	Mutation and expression analyses of the MET and CDKN2A genes in rhabdomyosarcoma with emphasis on MET overexpression. [electronic resource] by Chen, Yuyan Takita, Junko Mizuguchi, Masashi Tanaka, Kiyoshi Ida, Kohmei Koh, Katsuyoshi Igarashi, Takashi Hanada, Ryoji Tanaka, Yukichi Park, Myoung-Ja Hayashi, Yasuhide Producer: 20070418 In: Genes, chromosomes & cancer vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4211.	Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense. [electronic resource] by Aartsma-Rus, Annemieke Janson, Anneke A M Kaman, Wendy E Bremmer-Bout, Mattie van Ommen, Gert-Jan B den Dunnen, Johan T van Deutekom, Judith C T Producer: 20040301 In: American journal of human genetics vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4212.	Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach. [electronic resource] by Deng, Han-Xiang Han-Xiang, Deng Jiang, Hujun Hujun, Jiang Fu, Ronggen Ronggen, Fu Zhai, Hong Hong, Zhai Shi, Yong Yong, Shi Liu, Erdong Erdong, Liu Hirano, Makito Makito, Hirano Dal Canto, Mauro C Mauro, C Dal Canto Siddique, Teepu Teepu, Siddique Producer: 20080804 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4213.	Lotus japonicus nodulation requires two GRAS domain regulators, one of which is functionally conserved in a non-legume. [electronic resource] by Heckmann, Anne B Lombardo, Fabien Miwa, Hiroki Perry, Jillian A Bunnewell, Sue Parniske, Martin Wang, Trevor L Downie, J Allan Producer: 20070320 In: Plant physiology vol. 142 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4214.	Heterozygous N-terminal deletion of IkappaBalpha results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. [electronic resource] by McDonald, Douglas R Mooster, Jana L Reddy, Malathi Bawle, Erawati Secord, Elizabeth Geha, Raif S Producer: 20071102 In: The Journal of allergy and clinical immunology vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4215.	A specific role for the C-terminal region of the Poly(A)-binding protein in mRNA decay. [electronic resource] by Simón, Ernesto Séraphin, Bertrand Producer: 20071126 In: Nucleic acids research vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4216.	LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin. [electronic resource] by Maselli, Ricardo A Fernandez, Jose M Arredondo, Juan Navarro, Carmen Ngo, Maian Beeson, David Cagney, Orla Williams, D Colette Wollmann, Robert L Yarov-Yarovoy, Vladimir Ferns, Michael J Producer: 20120824 In: Human genetics vol. 131 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4217.	Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. [electronic resource] by Preising, Markus N Hausotter-Will, Nora Solbach, Manuel C Friedburg, Christoph Rüschendorf, Franz Lorenz, Birgit Producer: 20120831 In: Investigative ophthalmology & visual science vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4218.	Genetic analysis of the CHD7 gene in Korean patients with CHARGE syndrome. [electronic resource] by Cho, Hyun-Ju Song, Mee Hyun Choi, Soo-Young Kim, Jeongho Lee, Jinwook Kim, Un-Kyung Bok, Jinwoong Choi, Jae Young Producer: 20130401 In: Gene vol. 517 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4219.	The hUPF1-NMD factor controls the cellular transcript levels of different genes of complex I of the respiratory chain. [electronic resource] by Panelli, Damiano Lorusso, Francesca Paola Trentadue, Raffaella Stella, Alessandro Sardanelli, Anna Maria Papa, Sergio Producer: 20130305 In: Biochimie vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4220.	Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree. [electronic resource] by Xu, X Zhang, L Tong, P Xun, G Su, W Xiong, Z Zhu, T Zheng, Y Luo, S Pan, Y Xia, K Hu, Z Producer: 20131204 In: Clinical genetics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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