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	4801.	A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. [electronic resource] by Asmus, F Horber, V Pohlenz, J Schwabe, D Zimprich, A Munz, M Schöning, M Gasser, T Producer: 20051227 In: Neurology vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4802.	Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII. [electronic resource] by Pinotti, M Rizzotto, L Pinton, P Ferraresi, P Chuansumrit, A Charoenkwan, P Marchetti, G Rizzuto, R Mariani, G Bernardi, F Producer: 20071130 In: Journal of thrombosis and haemostasis : JTH vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4803.	Attenuation of disease phenotype through alternative translation initiation in low-penetrance retinoblastoma. [electronic resource] by Sánchez-Sánchez, Francisco Ramírez-Castillejo, Carmen Weekes, Daniel B Beneyto, Magdalena Prieto, Félix Nájera, Carmen Mittnacht, Sibylle Producer: 20070228 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4804.	Chimeric RNA/ethylene-bridged nucleic acids promote dystrophin expression in myocytes of duchenne muscular dystrophy by inducing skipping of the nonsense mutation-encoding exon. [electronic resource] by Surono, Agus Van Khanh, Tran Takeshima, Yasuhiro Wada, Hiroko Yagi, Mariko Takagi, Miho Koizumi, Makoto Matsuo, Masafumi Producer: 20050225 In: Human gene therapy vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4805.	Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. [electronic resource] by Higgins, Joseph J Hao, Jin Kosofsky, Barry E Rajadhyaksha, Anjali M Producer: 20090615 In: Neurogenetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4806.	Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. [electronic resource] by Guerin, K Gregory-Evans, C Y Hodges, M D Moosajee, M Mackay, D S Gregory-Evans, K Flannery, John G Producer: 20090115 In: Experimental eye research vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4807.	Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B. [electronic resource] by Yang, Dong Rismanchi, Neggy Renvoisé, Benoît Lippincott-Schwartz, Jennifer Blackstone, Craig Hurley, James H Producer: 20081231 In: Nature structural & molecular biology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4808.	Development of K562 cell clones expressing beta-globin mRNA carrying the beta039 thalassaemia mutation for the screening of correctors of stop-codon mutations. [electronic resource] by Salvatori, Francesca Cantale, Vera Breveglieri, Giulia Zuccato, Cristina Finotti, Alessia Bianchi, Nicoletta Borgatti, Monica Feriotto, Giordana Destro, Federica Canella, Alessandro Breda, Laura Rivella, Stefano Gambari, Roberto Producer: 20090914 In: Biotechnology and applied biochemistry vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4809.	CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. [electronic resource] by Goizet, Cyril Boukhris, Amir Durr, Alexandra Beetz, Christian Truchetto, Jeremy Tesson, Christelle Tsaousidou, Maria Forlani, Sylvie Guyant-Maréchal, Lucie Fontaine, Bertrand Guimarães, João Isidor, Bertrand Chazouillères, Olivier Wendum, Dominique Grid, Djamel Chevy, Françoise Chinnery, Patrick F Coutinho, Paula Azulay, Jean-Philippe Feki, Imed Mochel, Fanny Wolf, Claude Mhiri, Chokri Crosby, Andrew Brice, Alexis Stevanin, Giovanni Producer: 20090630 In: Brain : a journal of neurology vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4810.	Stoichiometric imbalance in the receptor complex contributes to dysfunctional BMPR-II mediated signalling in pulmonary arterial hypertension. [electronic resource] by Nasim, M Talat Ghouri, Amar Patel, Bhakti James, Victoria Rudarakanchana, Nung Morrell, Nicholas W Trembath, Richard C Producer: 20080710 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4811.	Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. [electronic resource] by Saillour, Y Zanni, G Des Portes, V Heron, D Guibaud, L Iba-Zizen, M T Pedespan, J L Poirier, K Castelnau, L Julien, C Franconnet, C Bonthron, D Porteous, M E Chelly, J Bienvenu, T Producer: 20071129 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4812.	Multiple RNA surveillance mechanisms cooperate to reduce the amount of nonfunctional Ig kappa transcripts. [electronic resource] by Chemin, Guillaume Tinguely, Aurélien Sirac, Christophe Lechouane, Fabien Duchez, Sophie Cogné, Michel Delpy, Laurent Producer: 20100701 In: Journal of immunology (Baltimore, Md. : 1950) vol. 184 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4813.	[Larsen-syndrome: final diagnosis following multiple surgical interventions]. [electronic resource] by Kisfali, Péter Komlósi, Katalin Hadzsiev, Kinga Melegh, Béla Producer: 20130419 In: Orvosi hetilap vol. 154 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4814.	[Molecular identification of the PSORS2 locus: mutations and polymorphisms in CARD14 gene]. [electronic resource] by Dereure, O Producer: 20130701 In: Annales de dermatologie et de venereologie vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4815.	Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations. [electronic resource] by Silveira-Moriyama, Laura Gardiner, Alice R Meyer, Esther King, Mary D Smith, Martin Rakshi, Karl Parker, Alasdair Mallick, Andrew A Brown, Richard Vassallo, Grace Jardine, Philip E Guerreiro, Marilisa M Lees, Andrew J Houlden, Henry Kurian, Manju A Producer: 20130426 In: Developmental medicine and child neurology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4816.	Rb1/105 gene alterations and head and neck carcinogenesis. [electronic resource] by Sabir, Maimoona Baig, Ruqia Mehmood Mahjabeen, Ishrat Saeed, Muhammad Malik, Faraz Arshad Kayani, Mahmood Akhtar Producer: 20130114 In: Molecular biology reports vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4817.	Mannan-binding lectin-associated serine protease (MASP)-1 is crucial for lectin pathway activation in human serum, whereas neither MASP-1 nor MASP-3 is required for alternative pathway function. [electronic resource] by Degn, Søren E Jensen, Lisbeth Hansen, Annette G Duman, Duygu Tekin, Mustafa Jensenius, Jens C Thiel, Steffen Producer: 20121218 In: Journal of immunology (Baltimore, Md. : 1950) vol. 189 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4818.	Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer. [electronic resource] by Hansen, Thomas V O Jønson, Lars Albrechtsen, Anders Steffensen, Ane Y Bergsten, Eva Myrhøj, Torben Ejlertsen, Bent Nielsen, Finn C Producer: 20110131 In: Breast cancer research and treatment vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4819.	Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature. [electronic resource] by Narumi, Yoko Kosho, Tomoki Tsuruta, Goro Shiohara, Masaaki Shimazaki, Ei Mori, Tetsuo Shimizu, Ayako Igawa, Yasuhiko Nishizawa, Shuji Takagi, Kimiyo Kawamura, Rie Wakui, Keiko Fukushima, Yoshimitsu Producer: 20110315 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4820.	Genetic studies of the cystathionine beta-synthase gene and myelomeningocele. [electronic resource] by Tilley, Melissa M Northrup, Hope Au, Kit Sing Producer: 20120502 In: Birth defects research. Part A, Clinical and molecular teratology vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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