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	2161.	New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism. [electronic resource] by Rawal, N Periquet, M Lohmann, E Lücking, C B Teive, H A Ambrosio, G Raskin, S Lincoln, S Hattori, N Guimaraes, J Horstink, M W I M Dos Santos Bele, W Brousolle, E Destée, A Mizuno, Y Farrer, M Deleuze, J-F De Michele, G Agid, Y Dürr, A Brice, A Producer: 20040114 In: Neurology vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2162.	A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect. [electronic resource] by Hu, Guofang Yildirim, Mehmet Baysal, Vahide Yerebakan, Ozlem Yilmaz, Ertan Inaloz, H Serhat Martinez-Mir, Amalia Christiano, Angela M Celebi, Julide Tok Producer: 20030716 In: The Journal of investigative dermatology vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2163.	Nonsense mutations in the lsa-like gene in Enterococcus faecalis isolates susceptible to lincosamides and Streptogramins A. [electronic resource] by Dina, Julia Malbruny, Brigitte Leclercq, Roland Producer: 20030814 In: Antimicrobial agents and chemotherapy vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2164.	Dysferlin and muscular dystrophy. [electronic resource] by Bushby, K M Producer: 20010531 In: Acta neurologica Belgica vol. 100 Availability: No items available. Save to lists Add to cart (remove)
	2165.	FLG mutation p.Lys4021X in the C-terminal imperfect filaggrin repeat in Japanese patients with atopic eczema. [electronic resource] by Nemoto-Hasebe, I Akiyama, M Nomura, T Sandilands, A McLean, W H I Shimizu, H Producer: 20100416 In: The British journal of dermatology vol. 161 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2166.	Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type. [electronic resource] by Lee, Beom Hee Ahn, Yo Han Choi, Hyun Jin Kang, Hee Kyung Kim, Sung-Do Cho, Byoung-Soo Moon, Kyung Chul Ha, Il Soo Cheong, Hae Il Choi, Yong Producer: 20090320 In: Journal of Korean medical science vol. 24 Suppl Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2167.	Chapter 9. Studying nonsense-mediated mRNA decay in mammalian cells. [electronic resource] by Matsuda, Daiki Sato, Hanae Maquat, Lynne E Producer: 20090326 In: Methods in enzymology vol. 449 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2168.	Integrin-linked kinase associated with integrin activation. [electronic resource] by Honda, Shigenori Shirotani-Ikejima, Hiroko Tadokoro, Seiji Maeda, Yusuke Kinoshita, Taroh Tomiyama, Yoshiaki Miyata, Toshiyuki Producer: 20090617 In: Blood vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2169.	Homozygous nonsense mutation in WNT10B and sporadic split-hand/foot malformation (SHFM) with autosomal recessive inheritance. [electronic resource] by Blattner, Ariane Huber, Andreas R Röthlisberger, Benno Producer: 20101115 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)
	2170.	[Aberrant expression pattern of a novel mutation in connexin 26 gene resulting in autosomal recessive deafness]. [electronic resource] by Yang, Zhong-chun Xiao, Zi-an Xie, Ding-hua Xia, Kun Producer: 20100916 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2171.	Leaky termination at premature stop codons antagonizes nonsense-mediated mRNA decay in S. cerevisiae. [electronic resource] by Keeling, Kim M Lanier, Jessica Du, Ming Salas-Marco, Joe Gao, Lin Kaenjak-Angeletti, Anisa Bedwell, David M Producer: 20040503 In: RNA (New York, N.Y.) vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2172.	Biophysical characterization of fibrinogen Caracas I with an Aalpha-chain truncation at Aalpha-466 Ser: identification of the mutation and biophysical characterization of properties of clots from plasma and purified fibrinogen. [electronic resource] by Marchi, Rita Meyer, Michael de Bosch, Norma Soria, Jeannette Arocha-Piñango, Carmen Luisa Weisel, John W Producer: 20050216 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2173.	Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. [electronic resource] by Ikinciogullari, Aydan Tekin, Mustafa Dogu, Figen Reisli, Ismail Tanir, Gonul Yi, Zanhua Garrison, Nanibaa Brilliant, Murray H Babacan, Emel Producer: 20050721 In: European journal of pediatrics vol. 164 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2174.	Pharmacologic approaches to correcting the basic defect in cystic fibrosis. [electronic resource] by Lukacs, Gergely L Durie, Peter R Producer: 20031014 In: The New England journal of medicine vol. 349 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2175.	SNP2NMD: a database of human single nucleotide polymorphisms causing nonsense-mediated mRNA decay. [electronic resource] by Han, Areum Kim, Woo-Yeon Park, Seong-Min Producer: 20070228 In: Bioinformatics (Oxford, England) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2176.	A conserved role for cytoplasmic poly(A)-binding protein 1 (PABPC1) in nonsense-mediated mRNA decay. [electronic resource] by Behm-Ansmant, Isabelle Gatfield, David Rehwinkel, Jan Hilgers, Valérie Izaurralde, Elisa Producer: 20070724 In: The EMBO journal vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2177.	Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome. [electronic resource] by Flipsen-ten Berg, Klara van Hasselt, Peter M Eleveld, Marc J van der Wijst, Suzanne E Hol, Frans A de Vroede, Monique A M Beemer, Frits A Hochstenbach, P F Ron Poot, Martin Producer: 20080104 In: European journal of human genetics : EJHG vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2178.	Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation. [electronic resource] by Ogino, Wakako Takeshima, Yasuhiro Nishiyama, Atsushi Okizuka, Yo Yagi, Mariko Tsuneishi, Shuichi Saiki, Kayoko Kugo, Masaaki Matsuo, Masafumi Producer: 20080813 In: The Kobe journal of medical sciences vol. 53 Availability: No items available. Save to lists Add to cart (remove)
	2179.	Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations. [electronic resource] by Riise Stensland, Hilde Monica Frostad Persichetti, Emanuele Sorriso, Carmelita Hansen, Gaute Martin Bibi, Lucia Paciotti, Silvia Balducci, Chiara Beccari, Tommaso Producer: 20080814 In: Molecular genetics and metabolism vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2180.	Expression levels of the ABCG2 multidrug transporter in human erythrocytes correspond to pharmacologically relevant genetic variations. [electronic resource] by Kasza, Ildikó Várady, György Andrikovics, Hajnalka Koszarska, Magdalena Tordai, Attila Scheffer, George L Németh, Adrienn Szakács, Gergely Sarkadi, Balázs Producer: 20130506 In: PloS one vol. 7 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.