Your search returned 5852 results.

Results
	1341.	A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia. [electronic resource] by Hong, K M Kim, Y S Paik, M K Producer: 20010712 In: Human heredity vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1342.	A non-sense mutation in Cd36 gene is associated with protection from severe malaria. [electronic resource] by Pain, A Urban, B C Kai, O Casals-Pascual, C Shafi, J Marsh, K Roberts, D J Producer: 20010614 In: Lancet (London, England) vol. 357 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1343.	High frequency of premature termination mutations in the factor V gene: three factor V deficiency case reports and a mutation review. [electronic resource] by Schrijver, Iris Hong, Debbie W Mandle, Lisa Jones, Carol D DiMichele, Donna Monahan, Paul E Zehnder, James L Producer: 20090915 In: Thrombosis and haemostasis vol. 93 Availability: No items available. Save to lists Add to cart (remove)
	1344.	Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop]). [electronic resource] by Préhu, Claude Pissard, Serge Al-Sheikh, Maha Le Niger, Catherine Bachir, Dora Galactéros, Fréderic Wajcman, Henri Producer: 20051223 In: Hemoglobin vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1345.	Listening to silence and understanding nonsense: exonic mutations that affect splicing. [electronic resource] by Cartegni, Luca Chew, Shern L Krainer, Adrian R Producer: 20020510 In: Nature reviews. Genetics vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1346.	Revelation by single-nucleotide polymorphism genotyping that mutations leading to a premature stop codon in inlA are common among Listeria monocytogenes isolates from ready-to-eat foods but not human listeriosis cases. [electronic resource] by Van Stelten, A Simpson, J M Ward, T J Nightingale, K K Producer: 20100723 In: Applied and environmental microbiology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1347.	A food-grade site-directed mutagenesis system for Streptococcus thermophilus LMG 18311. [electronic resource] by Blomqvist, T Steinmoen, H Håvarstein, L S Producer: 20100804 In: Letters in applied microbiology vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1348.	A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2). [electronic resource] by Nakamura, Katsuya Yoshida, Kunihiro Makishita, Hideo Kitamura, Eiko Hashimoto, Shiori Ikeda, Shu-Ichi Producer: 20100507 In: Journal of human genetics vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1349.	V-shaped hyperpigmented linear lesions, patchy hypotrichosis, and teeth abnormalities in a young girl. [electronic resource] by Toll, Agustí Vincent, Marie-Claire Calvas, Patrick Pujol, Ramon M Producer: 20071206 In: Pediatric dermatology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1350.	A unique insertion/duplication in the VDR gene that truncates the VDR causing hereditary 1,25-dihydroxyvitamin D-resistant rickets without alopecia. [electronic resource] by Malloy, Peter J Wang, Jining Peng, Lihong Nayak, Sunil Sisk, Jeanne M Thompson, Catherine C Feldman, David Producer: 20070605 In: Archives of biochemistry and biophysics vol. 460 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1351.	Werner syndrome helicase activity is essential in maintaining fragile site stability. [electronic resource] by Pirzio, Livia Maria Pichierri, Pietro Bignami, Margherita Franchitto, Annapaola Producer: 20080207 In: The Journal of cell biology vol. 180 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1352.	Diagnostic challenges of Marfan syndrome in an XYY young man. [electronic resource] by Lebreiro, Ana Martins, Elisabete Machado, José Carlos Abreu-Lima, Cassiano Producer: 20130125 In: Cardiology in the young vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1353.	Two novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. [electronic resource] by Yuan, Chunying Liu, Hong Fu, Xi'an Yu, Yongxiang Yu, Gongqi Bao, Fangfang Lu, Nan Li, Jinghui Liu, Jian Tian, Hongqing Zhang, Furen Producer: 20130425 In: Indian journal of dermatology, venereology and leprology vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1354.	A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease. [electronic resource] by Hamby, Stephen E Thomas, Nick S T Cooper, David N Chuzhanova, Nadia Producer: 20111014 In: Human genomics vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1355.	A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. [electronic resource] by Kohl, Susanne Coppieters, Frauke Meire, Françoise Schaich, Simone Roosing, Susanne Brennenstuhl, Christina Bolz, Sylvia van Genderen, Maria M Riemslag, Frans C C Lukowski, Robert den Hollander, Anneke I Cremers, Frans P M De Baere, Elfride Hoyng, Carel B Wissinger, Bernd Producer: 20121217 In: American journal of human genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1356.	Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ. [electronic resource] by Burns, Siobhan O Plagnol, Vincent Gutierrez, Beatriz Morillo Al Zahrani, Daifulah Curtis, James Gaspar, Miguel Hassan, Amel Jones, Alison M Malone, Marian Rampling, Dyanne McLatchie, Alex Doffinger, Rainer Gilmour, Kimberly C Henriquez, Frances Thrasher, Adrian J Gaspar, H Bobby Nejentsev, Sergey Producer: 20141204 In: The Journal of allergy and clinical immunology vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1357.	The expanding phenotypic spectrum of ARFGEF2 gene mutation: Cardiomyopathy and movement disorder. [electronic resource] by Yilmaz, Sanem Gokben, Sarenur Serdaroglu, Gul Eraslan, Cenk Mancini, Grazia M S Tekin, Hande Tekgul, Hasan Producer: 20161005 In: Brain & development vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1358.	Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient. [electronic resource] by Manimaran, Paramasivam Subramanian, Veedamali S Karthi, Sellamuthu Gandhimathi, Krishnan Varalakshmi, Perumal Ganesh, Ramasamy Rathinavel, Andiappan Said, Hamid M Ashokkumar, Balasubramaniem Producer: 20160930 In: Clinica chimica acta; international journal of clinical chemistry vol. 452 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1359.	Natural variation in sensitivity to a loss of chloroplast translation in Arabidopsis. [electronic resource] by Parker, Nicole Wang, Yixing Meinke, David Producer: 20160115 In: Plant physiology vol. 166 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1360.	Bleomycin hydrolase downregulation in lesional skin of adult atopic dermatitis patients is independent of FLG gene mutations. [electronic resource] by Pellerin, Laurence Paul, Carle Schmitt, Anne-Marie Serre, Guy Simon, Michel Producer: 20150206 In: The Journal of allergy and clinical immunology vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

First
Previous
59
60
61
62
63
64
65
66
67
68
69
70
71
72
73
74
75
76
77
78
Next
Last

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.