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	5061.	An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements. [electronic resource] by Disset, A Bourgeois, C F Benmalek, N Claustres, M Stevenin, J Tuffery-Giraud, Sylvie Producer: 20071105 In: Human molecular genetics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5062.	Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. [electronic resource] by Wilschanski, Michael Yahav, Yaacov Yaacov, Yasmin Blau, Hannah Bentur, Lea Rivlin, Joseph Aviram, Micha Bdolah-Abram, Tali Bebok, Zsuzsa Shushi, Liat Kerem, Batsheva Kerem, Eitan 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)
	5063.	The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. [electronic resource] by Nishimura, Gen Nakashima, Eiji Hirose, Yuichiro Cole, Trevor Cox, Phillip Cohn, Daniel H Rimoin, David L Lachman, Ralph S Miyamoto, Yoshinari Kerr, Bronwyn Unger, Sheila Ohashi, Hirofumi Superti-Furga, Andrea Ikegawa, Shiro Producer: 20070514 In: Journal of medical genetics vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5064.	Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome. [electronic resource] by Vieira, Veronique David, Gabriel Roche, Olivier de la Houssaye, Guillaume Boutboul, Sandrine Arbogast, Laurence Kobetz, Alexandra Orssaud, Christophe Camand, Olivier Schorderet, Daniel F Munier, Francis Rossi, Annick Delezoide, Anne Lise Marsac, Cecile Ricquier, Daniel Dufier, Jean-Louis Menasche, Maurice Abitbol, Marc Producer: 20070205 In: Molecular vision vol. 12 Availability: No items available. Save to lists Add to cart (remove)
	5065.	A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis. [electronic resource] by Couto, Ana R Bruges-Armas, Jacome Peach, Chris A Chapman, Kay Brown, Matthew A Wordsworth, B Paul Zhang, Yun Producer: 20071101 In: Calcified tissue international vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5066.	A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. [electronic resource] by Littink, Karin W van Genderen, Maria M Collin, Rob W J Roosing, Susanne de Brouwer, Arjan P M Riemslag, Frans C C Venselaar, Hanka Thiadens, Alberta A H J Hoyng, Carel B Rohrschneider, Klaus den Hollander, Anneke I Cremers, Frans P M van den Born, L Ingeborgh Producer: 20090512 In: Investigative ophthalmology & visual science vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5067.	Is there a classical nonsense-mediated decay pathway in trypanosomes? [electronic resource] by Delhi, Praveen Queiroz, Rafael Inchaustegui, Diana Carrington, Mark Clayton, Christine Producer: 20120203 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5068.	Correlation of rare coding variants in the gene encoding human glucokinase regulatory protein with phenotypic, cellular, and kinetic outcomes. [electronic resource] by Rees, Matthew G Ng, David Ruppert, Sarah Turner, Clesson Beer, Nicola L Swift, Amy J Morken, Mario A Below, Jennifer E Blech, Ilana Mullikin, James C McCarthy, Mark I Biesecker, Leslie G Gloyn, Anna L Collins, Francis S Producer: 20120306 In: The Journal of clinical investigation vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5069.	Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2. [electronic resource] by Nguyen-Dumont, Tú Jordheim, Lars P Michelon, Jocelyne Forey, Nathalie McKay-Chopin, Sandrine Sinilnikova, Olga Le Calvez-Kelm, Florence Southey, Melissa C Tavtigian, Sean V Lesueur, Fabienne Producer: 20110909 In: BMC medical genomics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5070.	Transcript profiling and gene characterization of three fatty acid desaturase genes in high, moderate, and low linolenic acid genotypes of flax (Linum usitatissimum L.) and their role in linolenic acid accumulation. [electronic resource] by Banik, Mitali Duguid, Scott Cloutier, Sylvie Producer: 20110922 In: Genome vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5071.	Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss. [electronic resource] by Huebner, Antje K Gandia, Marta Frommolt, Peter Maak, Anika Wicklein, Eva M Thiele, Holger Altmüller, Janine Wagner, Florian Viñuela, Antonio Aguirre, Luis A Moreno, Felipe Maier, Hannes Rau, Isabella Giesselmann, Sebastian Nürnberg, Gudrun Gal, Andreas Nürnberg, Peter Hübner, Christian A del Castillo, Ignacio Kurth, Ingo Producer: 20110815 In: American journal of human genetics vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5072.	NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. [electronic resource] by Won, Jungyeon Marín de Evsikova, Caralina Smith, Richard S Hicks, Wanda L Edwards, Malia M Longo-Guess, Chantal Li, Tiansen Naggert, Jürgen K Nishina, Patsy M Producer: 20110719 In: Human molecular genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5073.	An N-terminally truncated envelope protein encoded by a human endogenous retrovirus W locus on chromosome Xq22.3. [electronic resource] by Roebke, Christina Wahl, Silke Laufer, Georg Stadelmann, Christine Sauter, Marlies Mueller-Lantzsch, Nikolaus Mayer, Jens Ruprecht, Klemens Producer: 20101102 In: Retrovirology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5074.	SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. [electronic resource] by Fassio, Anna Patry, Lysanne Congia, Sonia Onofri, Franco Piton, Amelie Gauthier, Julie Pozzi, Davide Messa, Mirko Defranchi, Enrico Fadda, Manuela Corradi, Anna Baldelli, Pietro Lapointe, Line St-Onge, Judith Meloche, Caroline Mottron, Laurent Valtorta, Flavia Khoa Nguyen, Dang Rouleau, Guy A Benfenati, Fabio Cossette, Patrick Producer: 20110916 In: Human molecular genetics vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5075.	Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutations. [electronic resource] by Dranchak, Patricia K Di Pietro, Erminia Snowden, Ann Oesch, Nathan Braverman, Nancy E Steinberg, Steven J Hacia, Joseph G Producer: 20110720 In: Journal of cellular biochemistry vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5076.	Novel ethyl methanesulfonate (EMS)-induced null alleles of the Drosophila homolog of LRRK2 reveal a crucial role in endolysosomal functions and autophagy in vivo. [electronic resource] by Dodson, Mark W Leung, Lok K Lone, Mohiddin Lizzio, Michael A Guo, Ming Producer: 20150825 In: Disease models & mechanisms vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5077.	Within-host evolution of Burkholderia pseudomallei over a twelve-year chronic carriage infection. [electronic resource] by Price, Erin P Sarovich, Derek S Mayo, Mark Tuanyok, Apichai Drees, Kevin P Kaestli, Mirjam Beckstrom-Sternberg, Stephen M Babic-Sternberg, James S Kidd, Timothy J Bell, Scott C Keim, Paul Pearson, Talima Currie, Bart J Producer: 20140122 In: mBio vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5078.	The Upf factor complex interacts with aberrant products derived from mRNAs containing a premature termination codon and facilitates their proteasomal degradation. [electronic resource] by Kuroha, Kazushige Ando, Koji Nakagawa, Reiko Inada, Toshifumi Producer: 20131203 In: The Journal of biological chemistry vol. 288 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5079.	Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations. [electronic resource] by Alibakhshi, Reza Moradi, Keyvan Mohebbi, Zahra Ghadiri, Keyghobad Producer: 20150602 In: Metabolic brain disease vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5080.	A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia. [electronic resource] by Rojek, Aleksandra Flader, Maciej Malecka, Elzbieta Niedziela, Marek Producer: 20151026 In: Hormones (Athens, Greece) vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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