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	4821.	CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndrome. [electronic resource] by Song, Mee Hyun Cho, Hyun-Ju Lee, Hee Keun Kwon, Tae Jun Lee, Won-Sang Oh, Sanghee Bok, Jinwoong Choi, Jae Young Kim, Un-Kyung Producer: 20120608 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4822.	Dramatically different levels of Cacna1a gene expression between pre-weaning wild type and leaner mice. [electronic resource] by Veneziano, Liana Albertosi, Serena Pesci, Daniela Mantuano, Elide Frontali, Marina Jodice, Carla Producer: 20120403 In: Journal of the neurological sciences vol. 305 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4823.	Detailed assessment of renal function in a proband with Harboyan syndrome caused by a novel homozygous SLC4A11 nonsense mutation. [electronic resource] by Liskova, Petra Dudakova, Lubica Tesar, Vladimir Bednarova, Vladimira Kidorova, Jana Jirsova, Katerina Davidson, Alice E Hardcastle, Alison J Producer: 20150804 In: Ophthalmic research vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4824.	Identification of a nonsense mutation in feline ABCB1. [electronic resource] by Mealey, K L Burke, N S Producer: 20160607 In: Journal of veterinary pharmacology and therapeutics vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4825.	A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child. [electronic resource] by Komara, Makanko Al-Shamsi, Aisha M Ben-Salem, Salma Ali, Bassam R Al-Gazali, Lihadh Producer: 20160810 In: Journal of molecular neuroscience : MN vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4826.	PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. [electronic resource] by Azzedine, Hamid Zavadakova, Petra Planté-Bordeneuve, Violaine Vaz Pato, Maria Pinto, Nuno Bartesaghi, Luca Zenker, Jennifer Poirot, Olivier Bernard-Marissal, Nathalie Arnaud Gouttenoire, Estelle Cartoni, Romain Title, Alexandra Venturini, Giulia Médard, Jean-Jacques Makowski, Edward Schöls, Ludger Claeys, Kristl G Stendel, Claudia Roos, Andreas Weis, Joachim Dubourg, Odile Leal Loureiro, José Stevanin, Giovanni Said, Gérard Amato, Anthony Baraban, Jay LeGuern, Eric Senderek, Jan Rivolta, Carlo Chrast, Roman Producer: 20140422 In: Human molecular genetics vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4827.	A new series of small molecular weight compounds induce read through of all three types of nonsense mutations in the ATM gene. [electronic resource] by Du, Liutao Jung, Michael E Damoiseaux, Robert Completo, Gladys Fike, Francesca Ku, Jin-Mo Nahas, Shareef Piao, Cijing Hu, Hailiang Gatti, Richard A Producer: 20140326 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4828.	Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia. [electronic resource] by Cefalù, Angelo B Spina, Rossella Noto, Davide Valenti, Vincenza Ingrassia, Valeria Giammanco, Antonina Panno, Maria D Ganci, Antonina Barbagallo, Carlo M Averna, Maurizio R Producer: 20160317 In: Arteriosclerosis, thrombosis, and vascular biology vol. 35 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4829.	Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome. [electronic resource] by Roosing, Susanne Rosti, Rasim O Rosti, Basak de Vrieze, Erik Silhavy, Jennifer L van Wijk, Erwin Wakeling, Emma Gleeson, Joseph G Producer: 20170621 In: Human genetics vol. 135 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4830.	Yeast RNA-Binding Protein Nab3 Regulates Genes Involved in Nitrogen Metabolism. [electronic resource] by Merran, Jonathan Corden, Jeffry L Producer: 20171002 In: Molecular and cellular biology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4831.	Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. [electronic resource] by Marchese, Maria Valvo, Giulia Moro, Francesca Sicca, Federico Santorelli, Filippo M Producer: 20161228 In: Neuromolecular medicine vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4832.	Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System. [electronic resource] by Kinoshita, Moritoshi Higashihara, Eiji Kawano, Haruna Higashiyama, Ryo Koga, Daisuke Fukui, Takafumi Gondo, Nobuhisa Oka, Takehiko Kawahara, Kozo Rigo, Krisztina Hague, Tim Katsuragi, Kiyonori Sudo, Kimiyoshi Takeshi, Masahiko Horie, Shigeo Nutahara, Kikuo Producer: 20170710 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4833.	Spectrum of MNX1 Pathogenic Variants and Associated Clinical Features in Korean Patients with Currarino Syndrome. [electronic resource] by Lee, Seungjun Kim, Eun Jin Cho, Sung Im Park, Hyunwoong Seo, Soo Hyun Seong, Moon Woo Park, Sung Sup Jung, Sung Eun Lee, Seong Cheol Park, Kwi Won Kim, Hyun Young Producer: 20180809 In: Annals of laboratory medicine vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4834.	DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype. [electronic resource] by Wang, Richard T Barthelemy, Florian Martin, Ann S Douine, Emilie D Eskin, Ascia Lucas, Ann Lavigne, Jenifer Peay, Holly Khanlou, Negar Sweeney, Lee Cantor, Rita M Miceli, M Carrie Nelson, Stanley F Producer: 20190726 In: Human mutation vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4835.	Deletion mutagenesis of Tn 10 Tet repressor--localization of regions important for dimerization and inducibility in vivo. [electronic resource] by Berens, C Pfleiderer, K Helbl, V Hillen, W Producer: 19961212 In: Molecular microbiology vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4836.	Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis. [electronic resource] by Aoufouchi, S Yélamos, J Milstein, C Producer: 19960613 In: Cell vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4837.	A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. [electronic resource] by North, K N Yang, N Wattanasirichaigoon, D Mills, M Easteal, S Beggs, A H Producer: 19990426 In: Nature genetics vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4838.	Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. [electronic resource] by Höglund, P Sormaala, M Haila, S Socha, J Rajaram, U Scheurlen, W Sinaasappel, M de Jonge, H Holmberg, C Yoshikawa, H Kere, J Producer: 20011212 In: Human mutation vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4839.	Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. [electronic resource] by Sakamoto, O Ogawa, E Ohura, T Igarashi, Y Matsubara, Y Narisawa, K Iinuma, K Producer: 20001211 In: Pediatric research vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4840.	Clinical course of patients with WASP gene mutations. [electronic resource] by Imai, Kohsuke Morio, Tomohiro Zhu, Yi Jin, Yinzhu Itoh, Sukeyuki Kajiwara, Michiko Yata, Jun-Ichi Mizutani, Shuki Ochs, Hans D Nonoyama, Shigeaki Producer: 20040226 In: Blood vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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