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	1861.	Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. [electronic resource] by Heeringa, Saskia F Vlangos, Christopher N Chernin, Gil Hinkes, Bernward Gbadegesin, Rasheed Liu, Jinhong Hoskins, Bethan E Ozaltin, Fatih Hildebrandt, Friedhelm Producer: 20090302 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1862.	Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay. [electronic resource] by Grandemange, Sylvie Soler, Stephan Touitou, Isabelle Producer: 20100212 In: Human molecular genetics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1863.	Novel human pathological mutations. Gene symbol: ALAS2. Disease: sideroblastic anaemia. [electronic resource] by Pereira, Janet Carvalho Barbot, J Ribeiro, M L Producer: 20090908 In: Human genetics vol. 126 Availability: No items available. Save to lists Add to cart (remove)
	1864.	Mutations in coagulation factor XIII subunit A in severe factor XIII deficiency patients: five novel mutations detected. [electronic resource] by Shanbhag, S Shetty, S Ghosh, K Producer: 20111128 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1865.	Rescue of melanocortin 4 receptor (MC4R) nonsense mutations by aminoglycoside-mediated read-through. [electronic resource] by Brumm, Harald Mühlhaus, Jessica Bolze, Florian Scherag, Susann Hinney, Anke Hebebrand, Johannes Wiegand, Susanna Klingenspor, Martin Grüters, Annette Krude, Heiko Biebermann, Heike Producer: 20120726 In: Obesity (Silver Spring, Md.) vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1866.	Codon usage in vertebrates is associated with a low risk of acquiring nonsense mutations. [electronic resource] by Schmid, Pirmin Flegel, Willy A Producer: 20110912 In: Journal of translational medicine vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1867.	Effects of premature termination codon polymorphisms in the Drosophila pseudoobscura subclade. [electronic resource] by Hoehn, Kenneth B McGaugh, Suzanne E Noor, Mohamed A F Producer: 20130422 In: Journal of molecular evolution vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1868.	Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation. [electronic resource] by Mejaddam, A Y Nennesmo, I Sejersen, T Producer: 20100601 In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology vol. 28 Availability: No items available. Save to lists Add to cart (remove)
	1869.	A novel actin mRNA splice variant regulates ACTG1 expression. [electronic resource] by Drummond, Meghan C Friderici, Karen H Producer: 20140320 In: PLoS genetics vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1870.	Rules that govern UPF1 binding to mRNA 3' UTRs. [electronic resource] by Kurosaki, Tatsuaki Maquat, Lynne E Producer: 20130502 In: Proceedings of the National Academy of Sciences of the United States of America vol. 110 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1871.	Evolution of the genetic code by incorporation of amino acids that improved or changed protein function. [electronic resource] by Francis, Brian R Producer: 20140505 In: Journal of molecular evolution vol. 77 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1872.	Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features. [electronic resource] by Moccia, Marcello Mosca, Lorena Erro, Roberto Cervasio, Mariarosaria Allocca, Roberto Vitale, Carmine Leonardi, Antonio Caranci, Ferdinando Del Basso-De Caro, Maria Laura Barone, Paolo Penco, Silvana Producer: 20150921 In: Neurobiology of aging vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1873.	Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets. [electronic resource] by Huang, Yanru Mei, Libin Pan, Qian Tan, Hu Quan, Yi Gui, Baoheng Chang, Jiazhen Ma, Ruiyu Peng, Ying Yang, Pu Liang, Desheng Wu, Lingqian Producer: 20150702 In: Gene vol. 565 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1874.	Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. [electronic resource] by Alhariri, Ahmad Hamilton, Katherine Oza, Vikash Cordoro, Kelly Sobreira, Nara L Malloy, Mary Slavotinek, Anne Producer: 20171201 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1875.	Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. [electronic resource] by McDonald, Craig M Campbell, Craig Torricelli, Ricardo Erazo Finkel, Richard S Flanigan, Kevin M Goemans, Nathalie Heydemann, Peter Kaminska, Anna Kirschner, Janbernd Muntoni, Francesco Osorio, Andrés Nascimento Schara, Ulrike Sejersen, Thomas Shieh, Perry B Sweeney, H Lee Topaloglu, Haluk Tulinius, Már Vilchez, Juan J Voit, Thomas Wong, Brenda Elfring, Gary Kroger, Hans Luo, Xiaohui McIntosh, Joseph Ong, Tuyen Riebling, Peter Souza, Marcio Spiegel, Robert J Peltz, Stuart W Mercuri, Eugenio Producer: 20180927 In: Lancet (London, England) vol. 390 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1876.	Simple chronic colitis model using hypopigmented mice with a Hermansky-Pudlak syndrome 5 gene mutation. [electronic resource] by Itoh, Yumi Nagaoka, Yasuo Katakura, Yoshio Kawahara, Hidehisa Takemori, Hiroshi Producer: 20171116 In: Pigment cell & melanoma research vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1877.	Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. [electronic resource] by Fong, Jamie C Rojas, Julio C Bang, Jee Legati, Andrea Rankin, Katherine P Forner, Sven Miller, Zachary A Karydas, Anna M Coppola, Giovanni Grouse, Carrie K Ralph, Jeffrey Miller, Bruce L Geschwind, Michael D Producer: 20180215 In: Journal of Alzheimer's disease : JAD vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1878.	Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease. [electronic resource] by Fateen, Ekram M El Mawgoud, Hanan Abd Eissa, Noura R Ibrahim, Mona M Aglan, Mona S Essawi, Mona L Producer: 20170130 In: Gene vol. 600 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1879.	Massively parallel DNA sequencing successfully identified seven families with deafness-associated MYO6 mutations: the mutational spectrum and clinical characteristics. [electronic resource] by Miyagawa, Maiko Nishio, Shin-Ya Kumakawa, Kozo Usami, Shin-Ichi Producer: 20150818 In: The Annals of otology, rhinology, and laryngology vol. 124 Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1880.	Expression and purification of histone H3 proteins containing multiple sites of lysine acetylation using nonsense suppression. [electronic resource] by Young, Isaac A Mittal, Chitvan Shogren-Knaak, Michael A Producer: 20161025 In: Protein expression and purification vol. 118 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.