Your search returned 5852 results.

Results
	2861.	A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. [electronic resource] by Terhal, Paulien Rösler, Bernd Kohlhase, Jürgen Producer: 20060530 In: American journal of medical genetics. Part A vol. 140 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2862.	Simultaneous ST-segment elevation in the right precordial and inferior leads in Brugada syndrome. [electronic resource] by Lombardi, Federico Potenza, Sergio Beltrami, Angelo Verzoni, Alessandro Brugada, Pedro Brugada, Ramon Producer: 20070720 In: Journal of cardiovascular medicine (Hagerstown, Md.) vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2863.	A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate. [electronic resource] by Abidi, F E Miano, M G Murray, J C Schwartz, C E Producer: 20070830 In: Clinical genetics vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2864.	Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. [electronic resource] by Yoshida, Shigeo Arita, Ryo-Ichi Yoshida, Ayako Tada, Hanayo Emori, Aki Noda, Yoshihiro Nakao, Shintaro Fujisawa, Kimihiko Ishibashi, Tatsuro Producer: 20041115 In: American journal of ophthalmology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2865.	Upf1p, a highly conserved protein required for nonsense-mediated mRNA decay, interacts with the nuclear pore proteins Nup100p and Nup116p. [electronic resource] by Nazarenus, Tara Cedarberg, Rebecca Bell, Ryan Cheatle, Joseph Forch, Amanda Haifley, Alexis Hou, Ann Wanja Kebaara, Bessie Shields, Christina Stoysich, Kate Taylor, Rachel Atkin, Audrey L Producer: 20050420 In: Gene vol. 345 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2866.	De novo germline mutation in the serine-threonine kinase STK11/LKB1 gene associated with Peutz-Jeghers syndrome. [electronic resource] by Hernan, I Roig, I Martin, B Gamundi, M J Martinez-Gimeno, M Carballo, M Producer: 20050228 In: Clinical genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2867.	Novel mechanism of revertant mosaicism in Dowling-Meara epidermolysis bullosa simplex. [electronic resource] by Smith, Frances J D Morley, Susan M McLean, W H Irwin Producer: 20040304 In: The Journal of investigative dermatology vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2868.	Communication with the exon-junction complex and activation of nonsense-mediated decay by human Upf proteins occur in the cytoplasm. [electronic resource] by Singh, Guramrit Jakob, Steffen Kleedehn, Mark G Lykke-Andersen, Jens Producer: 20071106 In: Molecular cell vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2869.	A mutation in the enamelin gene in a mouse model. [electronic resource] by Seedorf, H Klaften, M Eke, F Fuchs, H Seedorf, U Hrabe de Angelis, M Producer: 20070827 In: Journal of dental research vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2870.	Novel human pathological mutations. Gene symbol: SCN5A. Disease: Brugada Syndrome. [electronic resource] by Crotti, Lia Pedrazzini, M Insolia, R Cuoretti, A Ghidoni, A Dagradi, F Taravelli, E Chieffo, E Vicentini, A Schwartz, P J Producer: 20090908 In: Human genetics vol. 126 Availability: No items available. Save to lists Add to cart (remove)
	2871.	Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient. [electronic resource] by Villani, Guglielmo R D Grosso, Michela Pontarelli, Gianfranco Chierchia, Armando Sessa, Raffaele Sibilio, Michelina Parenti, Giancarlo Di Natale, Paola Producer: 20100525 In: Genetic testing and molecular biomarkers vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2872.	Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. [electronic resource] by Sugimoto, Yuka Muramatsu, Hideki Makishima, Hideki Prince, Courtney Jankowska, Anna M Yoshida, Nao Xu, Yinyan Nishio, Nobuhiro Hama, Asahito Yagasaki, Hiroshi Takahashi, Yoshiyuki Kato, Koji Manabe, Atsushi Kojima, Seiji Maciejewski, Jaroslaw P Producer: 20100901 In: British journal of haematology vol. 150 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2873.	Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. [electronic resource] by Nudelman, Igor Glikin, Dana Smolkin, Boris Hainrichson, Mariana Belakhov, Valery Baasov, Timor Producer: 20100827 In: Bioorganic & medicinal chemistry vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2874.	A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. [electronic resource] by Soggia, Ana Priscila Correa-Giannella, Maria Lúcia Fortes, Maria Angela Henriques Luna, Ana Mercedes Cavaleiro Pereira, Maria Adelaide Albergaria Producer: 20100408 In: BMC medical genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2875.	Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation. [electronic resource] by El-Sayed, W Shore, R C Parry, D A Inglehearn, C F Mighell, A J Producer: 20100511 In: Cells, tissues, organs vol. 191 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2876.	Treatment of a methylmalonyl-CoA mutase stopcodon mutation. [electronic resource] by Buck, Nicole E Wood, Leonie R Hamilton, Natasha J Bennett, Michael J Peters, Heidi L Producer: 20130326 In: Biochemical and biophysical research communications vol. 427 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2877.	Analysis of nonsense-mediated mRNA decay in mammalian cells. [electronic resource] by Nicholson, Pamela Joncourt, Raphael Mühlemann, Oliver Producer: 20121025 In: Current protocols in cell biology vol. Chapter 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2878.	Mutations in NSUN2 cause autosomal-recessive intellectual disability. [electronic resource] by Abbasi-Moheb, Lia Mertel, Sara Gonsior, Melanie Nouri-Vahid, Leyla Kahrizi, Kimia Cirak, Sebahattin Wieczorek, Dagmar Motazacker, M Mahdi Esmaeeli-Nieh, Sahar Cremer, Kirsten Weißmann, Robert Tzschach, Andreas Garshasbi, Masoud Abedini, Seyedeh S Najmabadi, Hossein Ropers, H Hilger Sigrist, Stephan J Kuss, Andreas W Producer: 20120625 In: American journal of human genetics vol. 90 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2879.	Late onset retinitis pigmentosa. [electronic resource] by Avila-Fernández, Almudena Cortón, Marta López-Molina, María I Martín-Garrido, Esther Cantalapiedra, Diego Fernández-Sánchez, Ruth Blanco-Kelly, Fiona Riveiro-Álvarez, Rosa Tatu, Sorina D Trujillo-Tiebas, María J García-Sandoval, Blanca Ayuso, Carmen Cremers, Frans P M Producer: 20120126 In: Ophthalmology vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2880.	Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia. [electronic resource] by Mueller, O Thomas Coovadia, A Producer: 20110506 In: Human genetics vol. 127 Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.