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	1761.	Myeloid leukemia associated with Down syndrome. [electronic resource] by Talsma, Caroline E Boyer, Daniel F Producer: 20180209 In: Blood vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1762.	Mitochondrial mutations in human cancer: Curation of translation. [electronic resource] by Caudron-Herger, Maϊwen Diederichs, Sven Producer: 20181025 In: RNA biology vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1763.	Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs. [electronic resource] by Bastaki, Fatma Bizzari, Sami Hamici, Sana Nair, Pratibha Mohamed, Madiha Saif, Fatima Malik, Ethar Mustafa Al-Ali, Mahmoud Taleb Hamzeh, Abdul Rezzak Producer: 20180101 In: Annals of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1764.	Mild case of Hailey-Hailey disease caused by a novel ATP2C1 mutation. [electronic resource] by Hanamura, Takuya Takeichi, Takuya Okuno, Yusuke Ichikawa, Daisuke Kono, Michihiro Akiyama, Masashi Producer: 20190819 In: The Journal of dermatology vol. 45 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1765.	Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot-Marie-Tooth disease reveals a varied and unusual phenotypic spectrum. [electronic resource] by Kontogeorgiou, Zoi Nikolaou, Katerina Kartanou, Chrisoula Breza, Marianthi Panas, Marios Karadima, Georgia Koutsis, Georgios Producer: 20200604 In: Journal of the peripheral nervous system : JPNS vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1766.	A Novel Homozygous Nonsense HYDIN Gene Mutation p.(Arg951*) in Primary Ciliary Dyskinesia. [electronic resource] by Benjamin, Antony Terance Ganesh, Ram Gaspar, Balan Louis Lucas, Jane Jackson, Claire Legendre, Marie Mani, Rahma Escudier, Estelle Producer: 20200210 In: Indian journal of pediatrics vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1767.	Congenital Primary Hypothyroidism with the Homozygous Nonsense Mutation P.K1374* in the Thyroglobulin Gene and a Normal-sized Thyroid Gland on Levothyroxine Replacement. [electronic resource] by Mizokami, Tetsuya Fukata, Shuji Kogai, Takahiko Hishinuma, Akira Hamada, Katsuhiko Maruta, Tetsushi Higashi, Kiichiro Tajiri, Junichi Producer: 20191225 In: Internal medicine (Tokyo, Japan) vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1768.	Re-evaluation of a Tn5::gacA mutant of Pseudomonas syringae pv. tomato DC3000 uncovers roles for uvrC and anmK in promoting virulence. [electronic resource] by O'Malley, Megan R Weisberg, Alexandra J Chang, Jeff H Anderson, Jeffrey C Producer: 20200311 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1769.	Functional rescue of c.3846G>A (W1282X) in patient-derived nasal cultures achieved by inhibition of nonsense mediated decay and protein modulators with complementary mechanisms of action. [electronic resource] by Laselva, Onofrio Eckford, Paul Dw Bartlett, Claire Ouyang, Hong Gunawardena, Tarini Na Gonska, Tanja Moraes, Theo J Bear, Christine E Producer: 20211019 In: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1770.	Identification of Novel Rare [electronic resource] by Kadioglu, Onat Saeed, Mohamed Munder, Markus Spuller, Andreas Greten, Henry Johannes Efferth, Thomas Producer: 20201026 In: Cells vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1771.	Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families. [electronic resource] by Ali, Ghazanfar Awan, Naheed Bashir Khawaja, Abdul Waheed Foo, Jia Nee Khor, Chiea Chuen Chang, Chu-Hua Chew, Elaine GuoYan Kiani, Farhat Rafique Jelani, Musharraf Producer: 20210708 In: The journal of gene medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1772.	Polysome-associated mRNAs are substrates for the nonsense-mediated mRNA decay pathway in Saccharomyces cerevisiae. [electronic resource] by Zhang, S Welch, E M Hogan, K Brown, A H Peltz, S W Jacobson, A Producer: 19970401 In: RNA (New York, N.Y.) vol. 3 Availability: No items available. Save to lists Add to cart (remove)
	1773.	Different ocular abnormalities in individuals of a three-generation family caused by a new nonsense mutation in the PST domain of the PAX6 gene. Mutations in brief no. 189. Online. [electronic resource] by Syagailo, Y Wilke, K Okladnova, O Eigel, A Lemmens, M Kramarov, V Horst, J Producer: 20000203 In: Human mutation vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1774.	Three novel mutations (P760L, L1305P, Q1351Stop) causing Wilson disease. [electronic resource] by Genschel, J Czlonkowska, A Sommer, G Buettner, C Bochow, B Lochs, H Schmidt, H Producer: 20010802 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1775.	Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly. [electronic resource] by Verlinsky, Yury Rechitsky, Svetlana Verlinsky, Oleg Ozen, Seckin Sharapova, Tatyana Masciangelo, Christina Morris, Randy Kuliev, Anver Producer: 20030416 In: The New England journal of medicine vol. 348 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1776.	Peutz-Jeghers syndrome: four novel inactivating germline mutations in the STK11 gene. Mutations in brief no. 227. Online. [electronic resource] by Kruse, R Uhlhaas, S Lamberti, C Keller, K M Jackisch, C Steinhard, J Knöpfle, G Loff, S Back, W Stolte, M Jungck, M Propping, P Friedl, W Jenne, D E Producer: 19990713 In: Human mutation vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1777.	Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. [electronic resource] by Magyar, István Colman, Dvora Arnold, Eliane Baumgartner, Daniela Bottani, Armand Fokstuen, Siv Addor, Marie-Claude Berger, Wolfgang Carrel, Thierry Steinmann, Beat Mátyás, Gábor Producer: 20091117 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1778.	Mutation analysis of CRYAA, CRYGC, and CRYGD associated with autosomal dominant congenital cataract in Brazilian families. [electronic resource] by Santana, Alessandro Waiswol, Mauro Arcieri, Enyr Saran Cabral de Vasconcellos, José Paulo Barbosa de Melo, Mônica Producer: 20090818 In: Molecular vision vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	1779.	Genome sequence of the endosymbiont Rickettsia peacockii and comparison with virulent Rickettsia rickettsii: identification of virulence factors. [electronic resource] by Felsheim, Roderick F Kurtti, Timothy J Munderloh, Ulrike G Producer: 20100317 In: PloS one vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1780.	A mathematical modelling framework for elucidating the role of feedback control in translation termination. [electronic resource] by de Silva, Eric Krishnan, J Betney, Russell Stansfield, Ian Producer: 20100820 In: Journal of theoretical biology vol. 264 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.