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	2121.	Correction of genetic disease by making sense from nonsense. [electronic resource] by Kaufman, R J Producer: 19990914 In: The Journal of clinical investigation vol. 104 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2122.	Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. [electronic resource] by Francis, Peter J Fishman, Gerald A Trzupek, Karmen M MacDonald, Ian M Stone, Edwin M Weleber, Richard G Producer: 20050818 In: Archives of ophthalmology (Chicago, Ill. : 1960) vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2123.	Cystic fibrosis with homozygous R553X mutation in a Taiwanese child. [electronic resource] by Chen, Hui-Ju Lin, Shuan-Pei Lee, Hung-Chang Chen, Chih-Ping Chiu, Nan-Chang Hung, Han-Yang Chern, Schu-Rern Chuang, Chih-Kuang Producer: 20060223 In: Journal of human genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2124.	Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. [electronic resource] by Bicocchi, Maria Patrizia Pasino, Mirella Lanza, Tiziana Bottini, Federico Molinari, Angelo Claudio Caprino, Daniela Rosano, Camillo Acquila, Maura Producer: 20050310 In: American journal of hematology vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2125.	Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. [electronic resource] by Ferdinandusse, S Kostopoulos, P Denis, S Rusch, H Overmars, H Dillmann, U Reith, W Haas, D Wanders, R J A Duran, M Marziniak, M Producer: 20060630 In: American journal of human genetics vol. 78 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2126.	Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. [electronic resource] by Albrecht, Beate Liebers, Manuela Kohlhase, Jürgen Producer: 20040728 In: American journal of medical genetics. Part A vol. 125A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2127.	Gene symbol: GLI3. Disease: Pallister-Hall syndrome. [electronic resource] by Kalff-Suske, M Paparidis, Z Bornholdt, D Cole, T Kalff-Suske, M Grzeschik, K-H Producer: 20040427 In: Human genetics vol. 114 Availability: No items available. Save to lists Add to cart (remove)
	2128.	Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. [electronic resource] by Hoefs, Saskia J G Dieteren, Cindy E J Rodenburg, Richard J Naess, Karin Bruhn, Helene Wibom, Rolf Wagena, Esther Willems, Peter H Smeitink, Jan A M Nijtmans, Leo G van den Heuvel, Lambert P Producer: 20090923 In: Human mutation vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2129.	Reappraisal of triosephosphate isomerase deficiency. [electronic resource] by Orosz, Ferenc Oláh, Judit Ovádi, Judit Producer: 20110331 In: European journal of haematology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2130.	A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. [electronic resource] by Ayub, Muhammad Basit, Sulman Jelani, Musharraf Ur Rehman, Fazal Iqbal, Muhammad Yasinzai, Masoom Ahmad, Wasim Producer: 20091027 In: American journal of human genetics vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2131.	Selection of cell death-deficient p53 mutants in Saccharomyces cerevisiae. [electronic resource] by Yacoubi-Hadj Amor, Ines Smaoui, Kamel Belguith, Hanène Djemal, Lamia Dardouri, Mosbeh Mokdad-Gargouri, Raja Gargouri, Ali Producer: 20090921 In: Yeast (Chichester, England) vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2132.	Pharmaceuticals targeting nonsense mutations in genetic diseases: progress in development. [electronic resource] by Rowe, Steven M Clancy, John P Producer: 20091016 In: BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2133.	Patched homologue 1 mutations in four Japanese families with basal cell nevus syndrome. [electronic resource] by Matsuzawa, N Nagao, T Shimozato, K Niikawa, N Yoshiura, K-I Producer: 20061129 In: Journal of clinical pathology vol. 59 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2134.	Systematic screening and treatment evaluation of hereditary neck paragangliomas. [electronic resource] by Fish, John H Klein-Weigel, Peter Biebl, Matthias Janecke, Andreas Tauscher, Thomas Fraedrich, Gustav Producer: 20071206 In: Head & neck vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2135.	Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. [electronic resource] by Rio Frio, Thomas Wade, Nicholas M Ransijn, Adriana Berson, Eliot L Beckmann, Jacques S Rivolta, Carlo Producer: 20080516 In: The Journal of clinical investigation vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2136.	Familial Beckwith-Wiedemann syndrome due to CDKN1C mutation manifesting with recurring omphalocele. [electronic resource] by Percesepe, Antonio Bertucci, Emma Ferrari, Paola Lugli, Licia Ferrari, Fabrizio Mazza, Vincenzo Forabosco, Antonino Producer: 20081104 In: Prenatal diagnosis vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2137.	Differential expression of the adhesion molecule Echinoid drives epithelial morphogenesis in Drosophila. [electronic resource] by Laplante, Caroline Nilson, Laura A Producer: 20061103 In: Development (Cambridge, England) vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2138.	[Genetic testing in a Chinese pedigree with Lowe syndrome]. [electronic resource] by Hua, Rui Yang, Wei Sun, Nian-hu Zhang, Xue Producer: 20120706 In: [Zhonghua yan ke za zhi] Chinese journal of ophthalmology vol. 47 Availability: No items available. Save to lists Add to cart (remove)
	2139.	Two cases of recessive dystrophic epidermolysis bullosa diagnosed as severe generalized. [electronic resource] by Ohashi, Masafumi Shu, En Nagai, Miki Murase, Kana Nakano, Hajime Tamai, Katuto Sawamura, Daisuke Hiroka, Takako Seishima, Mariko Kitajima, Yasuo Aoyama, Yumi Producer: 20120116 In: The Journal of dermatology vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2140.	MODY type 2 P59S GCK mutant: founder effect in South of Italy. [electronic resource] by Delvecchio, M Ludovico, O Bellacchio, E Stallone, R Palladino, T Mastroianno, S Zelante, L Sacco, M Trischitta, V Carella, M Producer: 20130712 In: Clinical genetics vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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