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	3601.	A case of aniridia with unilateral Peters anomaly. [electronic resource] by Sawada, Mayu Sato, Miho Hikoya, Akiko Wang, Chunxia Minoshima, Shinsei Azuma, Noriyuki Hotta, Yoshihiro Producer: 20110610 In: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3602.	Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. [electronic resource] by Lowe, Gillian C Sánchez Guiu, Isabel Chapman, Oliver Rivera, José Lordkipanidzé, Marie Dovlatova, Natalia Wilde, Jonathan Watson, Steve P Morgan, Neil V Producer: 20131112 In: Thrombosis and haemostasis vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3603.	Does the haplotype Met408-Del420, which was apparently predictive for imatinib efficacy, really exist and how strongly may it affect OCT1 activity? [electronic resource] by Tzvetkov, Mladen V Seitz, Tina Bokelmann, Kristin Mueller, Thomas Brockmöller, Jürgen Koepsell, Hermann Producer: 20140506 In: Blood vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3604.	Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers. [electronic resource] by Goyenvalle, Aurélie Griffith, Graziella Babbs, Arran El Andaloussi, Samir Ezzat, Kariem Avril, Aurélie Dugovic, Branislav Chaussenot, Rémi Ferry, Arnaud Voit, Thomas Amthor, Helge Bühr, Claudia Schürch, Stefan Wood, Matthew J A Davies, Kay E Vaillend, Cyrille Leumann, Christian Garcia, Luis Producer: 20150501 In: Nature medicine vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3605.	A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice. [electronic resource] by Shoji, Haruka Kiniwa, Yukiko Okuyama, Ryuhei Yang, Mu Higuchi, Keiichi Mori, Masayuki Producer: 20160229 In: Experimental animals vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3606.	Maturity-onset diabetes of the young and hepatic adenomatosis - characterisation of a new mutation. [electronic resource] by Iwen, K A Klein, J Hubold, C Lehnert, H Weitzel, J M Producer: 20140117 In: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3607.	Polyamine-responsive ribosomal arrest at the stop codon of an upstream open reading frame of the AdoMetDC1 gene triggers nonsense-mediated mRNA decay in Arabidopsis thaliana. [electronic resource] by Uchiyama-Kadokura, Naoko Murakami, Karin Takemoto, Mariko Koyanagi, Naoto Murota, Katsunori Naito, Satoshi Onouchi, Hitoshi Producer: 20150529 In: Plant & cell physiology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3608.	Nonsense suppression in archaea. [electronic resource] by Bhattacharya, Arpita Köhrer, Caroline Mandal, Debabrata RajBhandary, Uttam L Producer: 20150805 In: Proceedings of the National Academy of Sciences of the United States of America vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3609.	Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet disorder with propensity to myeloid malignancy restores normal megakaryopoiesis. [electronic resource] by Iizuka, Hiromitsu Kagoya, Yuki Kataoka, Keisuke Yoshimi, Akihide Miyauchi, Masashi Taoka, Kazuki Kumano, Keiki Yamamoto, Takashi Hotta, Akitsu Arai, Shunya Kurokawa, Mineo Producer: 20151231 In: Experimental hematology vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3610.	Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity. [electronic resource] by Josifova, Dragana J Monroe, Glen R Tessadori, Federico de Graaff, Esther van der Zwaag, Bert Mehta, Sarju G Harakalova, Magdalena Duran, Karen J Savelberg, Sanne M C Nijman, Isaäc J Jungbluth, Heinz Hoogenraad, Casper C Bakkers, Jeroen Knoers, Nine V Firth, Helen V Beales, Philip L van Haaften, Gijs van Haelst, Mieke M Producer: 20170925 In: Human molecular genetics vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3611.	Identification of a nonsense mutation in the STRC gene in a Korean family with moderate hearing loss. [electronic resource] by Sagong, Borum Baek, Jeong-In Bok, Jinwoong Lee, Kyu-Yup Kim, Un-Kyung Producer: 20160816 In: International journal of pediatric otorhinolaryngology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3612.	Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family. [electronic resource] by Okutman, Ozlem Muller, Jean Baert, Yoni Serdarogullari, Munevver Gultomruk, Meral Piton, Amélie Rombaut, Charlotte Benkhalifa, Moncef Teletin, Marius Skory, Valerie Bakircioglu, Emre Goossens, Ellen Bahceci, Mustafa Viville, Stéphane Producer: 20160706 In: Human molecular genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3613.	Hairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation. [electronic resource] by Murgiano, Leonardo Shirokova, Vera Welle, Monika Maria Jagannathan, Vidhya Plattet, Philippe Oevermann, Anna Pienkowska-Schelling, Aldona Gallo, Daniele Gentile, Arcangelo Mikkola, Marja Drögemüller, Cord Producer: 20160503 In: PLoS genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3614.	The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis. [electronic resource] by Brasell, Emma J Chu, LeeLee El Kares, Reyhan Seo, Jung Hwa Loesch, Robin Iglesias, Diana M Goodyer, Paul Producer: 20200505 In: Pediatric nephrology (Berlin, Germany) vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3615.	Mutations in PERP Cause Dominant and Recessive Keratoderma. [electronic resource] by Duchatelet, Sabine Boyden, Lynn M Ishida-Yamamoto, Akemi Zhou, Jing Guibbal, Laure Hu, Ronghua Lim, Young H Bole-Feysot, Christine Nitschké, Patrick Santos-Simarro, Fernando de Lucas, Raul Milstone, Leonard M Gildenstern, Vanessa Helfrich, Yolanda R Attardi, Laura D Lifton, Richard P Choate, Keith A Hovnanian, Alain Producer: 20191231 In: The Journal of investigative dermatology vol. 139 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3616.	A nonsense mutant of the hepatitis B virus large S protein antagonizes multiple tumor suppressor pathways through c-Jun activation domain-binding protein1. [electronic resource] by Chiu, Shu-Yi Chung, Hsiang-Ju Chen, Ya-Ting Huang, Min-Syuan Huang, Chien-Chih Huang, Shiu-Feng Matsuura, Isao Producer: 20191125 In: PloS one vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3617.	Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm. [electronic resource] by Bourcier, Romain Le Scouarnec, Solena Bonnaud, Stéphanie Karakachoff, Matilde Bourcereau, Emmanuelle Heurtebise-Chrétien, Sandrine Menguy, Céline Dina, Christian Simonet, Floriane Moles, Alexis Lenoble, Cédric Lindenbaum, Pierre Chatel, Stéphanie Isidor, Bertrand Génin, Emmanuelle Deleuze, Jean-François Schott, Jean-Jacques Le Marec, Hervé Loirand, Gervaise Desal, Hubert Redon, Richard Producer: 20181211 In: American journal of human genetics vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3618.	Correct integration mediated by integrase-LexA fusion proteins incorporated into HIV-1. [electronic resource] by Holmes-Son, Michelle L Chow, Samson A Producer: 20020927 In: Molecular therapy : the journal of the American Society of Gene Therapy vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3619.	Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex. [electronic resource] by Yamamoto, Toshiyuki Pipo, Judy R Feng, Jian-Hua Takeda, Hiromasa Nanba, Eiji Ninomiya, Haruaki Ohno, Kousaku Producer: 20020731 In: Brain & development vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3620.	Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. [electronic resource] by Boutet, Nathalie Bignon, Yves-Jean Drouin-Garraud, Valérie Sarda, Pierre Longy, Michel Lacombe, Didier Gorry, Philippe Producer: 20031006 In: The Journal of investigative dermatology vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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