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	2241.	Molecular, ultrastructural and functional characterization of a Spanish family with Hermansky-Pudlak syndrome: role of insC974 in platelet function and clinical relevance. [electronic resource] by González-Conejero, Rocio Rivera, José Escolar, Ginés Zuazu-Jausoro, Isabel Vicente, Vicente Corral, Javier Producer: 20031110 In: British journal of haematology vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2242.	The case for nuclear translation. [electronic resource] by Iborra, Francisco J Jackson, Dean A Cook, Peter R Producer: 20050620 In: Journal of cell science vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2243.	A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha2-globin gene (GAG-->TAG) in a Tunisian family. [electronic resource] by Siala, Hajer Fattoum, Slaheddine Messaoud, Taieb Ouali, Fadiq Gerard, Nathalie Krishnamoorthy, Rajagopal Producer: 20050216 In: Hemoglobin vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2244.	Missense or splicing mutation? The case of a fibrinogen Bbeta-chain mutation causing severe hypofibrinogenemia. [electronic resource] by Asselta, Rosanna Duga, Stefano Spena, Silvia Peyvandi, Flora Castaman, Giancarlo Malcovati, Massimo Mannucci, Pier Mannuccio Tenchini, Maria Luisa Producer: 20040527 In: Blood vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2245.	IGF-I receptor mutations and intrauterine and postnatal growth retardation. [electronic resource] by Unger, Sheila Producer: 20040406 In: The New England journal of medicine vol. 350 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2246.	eIF4AIII binds spliced mRNA in the exon junction complex and is essential for nonsense-mediated decay. [electronic resource] by Shibuya, Toshiharu Tange, Thomas Ø Sonenberg, Nahum Moore, Melissa J Producer: 20040519 In: Nature structural & molecular biology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2247.	Two Finnish USH1B patients with three novel mutations in myosin VIIA. [electronic resource] by Vastinsalo, Hanna Isosomppi, Juha Aittakorpi, Anne Sankila, Eeva-Marja Producer: 20061211 In: Molecular vision vol. 12 Availability: No items available. Save to lists Add to cart (remove)
	2248.	Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. [electronic resource] by Leoyklang, Petcharat Suphapeetiporn, Kanya Siriwan, Pichit Desudchit, Tayard Chaowanapanja, Pattraporn Gahl, William A Shotelersuk, Vorasuk Producer: 20070724 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2249.	Wolcott-Rallison syndrome: a clinical and genetic study of three children, novel mutation in EIF2AK3 and a review of the literature. [electronic resource] by Iyer, S Korada, M Rainbow, L Kirk, J Brown, R M Shaw, N Barrett, T G Producer: 20050111 In: Acta paediatrica (Oslo, Norway : 1992) vol. 93 Availability: No items available. Save to lists Add to cart (remove)
	2250.	Immunological abnormalities in CHARGE syndrome. [electronic resource] by Writzl, Karin Cale, Catherine M Pierce, Christine M Wilson, Louise C Hennekam, Raoul C M Producer: 20071121 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)
	2251.	No association of the ACTN3 gene R577X polymorphism with endurance performance in Ironman Triathlons. [electronic resource] by Saunders, C J September, A V Xenophontos, S L Cariolou, M A Anastassiades, L C Noakes, T D Collins, M Producer: 20071219 In: Annals of human genetics vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2252.	Progranulin null mutations in both sporadic and familial frontotemporal dementia. [electronic resource] by Le Ber, Isabelle van der Zee, Julie Hannequin, Didier Gijselinck, Ilse Campion, Dominique Puel, Michèle Laquerrière, Annie De Pooter, Tim Camuzat, Agnès Van den Broeck, Marleen Dubois, Bruno Sellal, François Lacomblez, Lucette Vercelletto, Martine Thomas-Antérion, Catherine Michel, Bernard-François Golfier, Véronique Didic, Mira Salachas, François Duyckaerts, Charles Cruts, Marc Verpillat, Patrice Van Broeckhoven, Christine Brice, Alexis Producer: 20071002 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2253.	A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis. [electronic resource] by Besbas, Nesrin Draaken, Markus Ludwig, Michael Deren, Ozgur Orhan, Diclehan Bilginer, Yelda Ozaltin, Fatih Producer: 20101122 In: European journal of pediatrics vol. 168 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2254.	Studies on nonsense mediated decay reveal novel therapeutic options for genetic diseases. [electronic resource] by Bashyam, Murali D Producer: 20090220 In: Recent patents on DNA & gene sequences vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2255.	Incomplete nonsense-mediated mRNA decay in Giardia lamblia. [electronic resource] by Chen, Yi-Hsiu Su, Li-Hsin Sun, Chin-Hung Producer: 20090618 In: International journal for parasitology vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2256.	MAMLD1 (CXorf6): a new gene involved in hypospadias. [electronic resource] by Ogata, Tsutomu Laporte, Jocelyn Fukami, Maki Producer: 20090828 In: Hormone research vol. 71 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2257.	Molecular genetics of maple syrup urine disease in the Turkish population. [electronic resource] by Gorzelany, Kerstin Dursun, Ali Coşkun, Turgay Kalkanoğlu-Sivri, Serap H Gökçay, Gülden Fatma Demirkol, Mübeccel Feyen, Oliver Wendel, Udo Producer: 20090625 In: The Turkish journal of pediatrics vol. 51 Availability: No items available. Save to lists Add to cart (remove)
	2258.	Gene symbol: CHD7. Disease: CHARGE syndrome. [electronic resource] by Ellison, Jay Producer: 20081024 In: Human genetics vol. 124 Availability: No items available. Save to lists Add to cart (remove)
	2259.	Evolutionary origin and functions of retrogene introns. [electronic resource] by Fablet, Marie Bueno, Manuel Potrzebowski, Lukasz Kaessmann, Henrik Producer: 20091203 In: Molecular biology and evolution vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2260.	Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report. [electronic resource] by Gokturk, B Artac, H van Eggermond, M J van den Elsen, P Reisli, İ Producer: 20121108 In: International journal of immunogenetics vol. 39 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 5852 results.