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	2181.	mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies. [electronic resource] by Macdonald, Robert L Kang, Jing-Qiong Producer: 20130204 In: Epilepsia vol. 53 Suppl 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2182.	Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype. [electronic resource] by Cappuccio, G Ginocchio, V M Maffè, A Ungari, S Andria, G Melis, D Producer: 20150330 In: Clinical genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2183.	A novel nonsense mutation of the SLC4A11 gene in a Korean patient with autosomal recessive congenital hereditary endothelial dystrophy. [electronic resource] by Park, Shin Hae Jeong, Hyun Jin Kim, Myungshin Kim, Man Soo Producer: 20140108 In: Cornea vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2184.	A nonsense mutation in the gene ROR2 underlying autosomal dominant brachydactyly type B. [electronic resource] by Habib, Rabia Amin-Ud-Din, Muhammad Ahmad, Wasim Producer: 20130911 In: Clinical dysmorphology vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2185.	Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis. [electronic resource] by Han, Joo Hyung Kim, Seung Jang, Hoon Kim, So Won Lee, Min Goo Koh, Hong Lee, Ji Hyun Producer: 20160428 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2186.	ANLN truncation causes a familial fatal acute respiratory distress syndrome in Dalmatian dogs. [electronic resource] by Holopainen, Saila Hytönen, Marjo K Syrjä, Pernilla Arumilli, Meharji Järvinen, Anna-Kaisa Rajamäki, Minna Lohi, Hannes Producer: 20170526 In: PLoS genetics vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2187.	A neurodevelopmental disorder with a nonsense mutation in the Ox-2 antigen domain of the amyloid precursor protein (APP) gene. [electronic resource] by Nguyen, Khue Vu Leydiker, Karen Wang, Raymond Abdenur, Jose Nyhan, William L Producer: 20170906 In: Nucleosides, nucleotides & nucleic acids vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2188.	Novel nonsense gain-of-function [electronic resource] by Kuehn, Hye Sun Niemela, Julie E Sreedhara, Karthik Stoddard, Jennifer L Grossman, Jennifer Wysocki, Christian A de la Morena, M Teresa Garofalo, Mary Inlora, Jingga Snyder, Michael P Lewis, David B Stratakis, Constantine A Fleisher, Thomas A Rosenzweig, Sergio D Producer: 20171023 In: Blood vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2189.	Identification and validation of genetic variants predictive of gait in standardbred horses. [electronic resource] by McCoy, Annette M Beeson, Samantha K Rubin, Carl-Johan Andersson, Leif Caputo, Paul Lykkjen, Sigrid Moore, Alison Piercy, Richard J Mickelson, James R McCue, Molly E Producer: 20191126 In: PLoS genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2190.	Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient. [electronic resource] by Shi, Xiaodong Huang, Xiaolan Zhang, Yu Cui, Xiaodai Producer: 20191202 In: BMC medical genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2191.	[Clinical and genetic analysis of a case with infantile Parkinsonism with motor delay due to tyrosine hydroxylase deficiency]. [electronic resource] by Chen, Chongfen Kong, Jinghui Ge, Lili Liu, Lei Song, Yinsen Producer: 20200402 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2192.	Severe growth hormone insensitivity (Laron syndrome) due to nonsense mutation of the GH receptor in brothers from Russia. [electronic resource] by Rosenbloom, A L Berg, M A Kasatkina, E P Volkova, T N Skorobogatova, V F Sokolovskaya, V N Francke, U Producer: 19960119 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2193.	Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. [electronic resource] by Santer, R Kinner, M Steuerwald, U Kjaergaard, S Skovby, F Simonsen, H Shaiu, W L Chen, Y T Schneppenheim, R Schaub, J Producer: 20011025 In: European journal of human genetics : EJHG vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2194.	Linguistic features of noncoding DNA sequences. [electronic resource] by Mantegna, R N Buldyrev, S V Goldberger, A L Havlin, S Peng, C K Simons, M Stanley, H E Producer: 19970219 In: Physical review letters vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2195.	Pre-mRNA processing: insights from nonsense. [electronic resource] by Brogna, S Producer: 20020122 In: Current biology : CB vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2196.	Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. [electronic resource] by Bénit, Paule Steffann, Julie Lebon, Sophie Chretien, Dominique Kadhom, Noman de Lonlay, Pascale Goldenberg, Alice Dumez, Yves Dommergues, Marc Rustin, Pierre Munnich, Arnold Rötig, Agnès Producer: 20030618 In: Human genetics vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2197.	The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings. [electronic resource] by Devon, R S Helm, J R Rouleau, G A Leitner, Y Lerman-Sagie, T Lev, D Hayden, M R Producer: 20040415 In: Clinical genetics vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2198.	Beta-globin cluster haplotypes in normal individuals and beta(0)39-thalassemia carriers from Sardinia, Italy. [electronic resource] by Piras, I Vona, G Falchi, A Latini, V Ristaldi, S Vacca, L Varesi, L Calò, C M Producer: 20060112 In: American journal of human biology : the official journal of the Human Biology Council vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2199.	Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient. [electronic resource] by Daraio, F Ryan, E Gleeson, F Roetto, A Crowe, J Camaschella, C Producer: 20060131 In: Blood cells, molecules & diseases vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2200.	A genetically encoded fluorescent amino acid. [electronic resource] by Summerer, Daniel Chen, Shuo Wu, Ning Deiters, Alexander Chin, Jason W Schultz, Peter G Producer: 20060823 In: Proceedings of the National Academy of Sciences of the United States of America vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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