Your search returned 5852 results.

Results
	4421.	A novel mutation in ALK-1 causes hereditary hemorrhagic telangiectasia type 2. [electronic resource] by Yan, Z M Fan, Z P Du, J Hua, H Xu, Y Y Wang, S L Producer: 20060927 In: Journal of dental research vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4422.	Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations. [electronic resource] by Borozdin, Wiktor Bravo Ferrer Acosta, Ana M Bamshad, Michael J Botzenhart, Elke M Froster, Ursula G Lemke, Johannes Schinzel, Albert Spranger, Stephanie McGaughran, Julie Wand, Dorothea Chrzanowska, Krystyna H Kohlhase, Jürgen Producer: 20061024 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4423.	Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies. [electronic resource] by Santamaria, Raül Chabás, Amparo Coll, Maria Josep Miranda, Clara Sa Vilageliu, Lluïsa Grinberg, Daniel Producer: 20061002 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4424.	Constitutive expression of outer surface protein C diminishes the ability of Borrelia burgdorferi to evade specific humoral immunity. [electronic resource] by Xu, Qilong Seemanapalli, Sunita V McShan, Kristy Liang, Fang Ting Producer: 20061026 In: Infection and immunity vol. 74 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4425.	Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. [electronic resource] by Zhang, Qingjiong Zulfiqar, Fareeha Xiao, Xueshan Riazuddin, S Amer Ahmad, Zahoor Caruso, Raphael MacDonald, Ian Sieving, Paul Riazuddin, Sheikh Hejtmancik, J Fielding Producer: 20080402 In: Human genetics vol. 122 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4426.	DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. [electronic resource] by Bartsch, Oliver Schmidt, Stefanie Richter, Marion Morlot, Susanne Seemanová, Eva Wiebe, Glenis Rasi, Sasan Producer: 20051011 In: Human genetics vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4427.	Hereditary early-onset Parkinson's disease caused by mutations in PINK1. [electronic resource] by Valente, Enza Maria Abou-Sleiman, Patrick M Caputo, Viviana Muqit, Miratul M K Harvey, Kirsten Gispert, Suzana Ali, Zeeshan Del Turco, Domenico Bentivoglio, Anna Rita Healy, Daniel G Albanese, Alberto Nussbaum, Robert González-Maldonado, Rafael Deller, Thomas Salvi, Sergio Cortelli, Pietro Gilks, William P Latchman, David S Harvey, Robert J Dallapiccola, Bruno Auburger, Georg Wood, Nicholas W Producer: 20040614 In: Science (New York, N.Y.) vol. 304 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4428.	Nonsense-mediated mRNA decay impacts MSI-driven carcinogenesis and anti-tumor immunity in colorectal cancers. [electronic resource] by El-Bchiri, Jamila Guilloux, Agathe Dartigues, Peggy Loire, Etienne Mercier, Dominique Buhard, Olivier Sobhani, Iradj de la Grange, Pierre Auboeuf, Didier Praz, Françoise Fléjou, Jean-François Duval, Alex Producer: 20081021 In: PloS one vol. 3 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4429.	Major tegument protein pp65 of human cytomegalovirus is required for the incorporation of pUL69 and pUL97 into the virus particle and for viral growth in macrophages. [electronic resource] by Chevillotte, Meike Landwehr, Sandra Linta, Leonhard Frascaroli, Giada Lüske, Anke Buser, Christopher Mertens, Thomas von Einem, Jens Producer: 20090324 In: Journal of virology vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4430.	OPA1 deficiency associated with increased autophagy in retinal ganglion cells in a murine model of dominant optic atrophy. [electronic resource] by White, Kathryn E Davies, Vanessa J Hogan, Vanessa E Piechota, Malgorzata J Nichols, Philip P Turnbull, Douglas M Votruba, Marcela Producer: 20090611 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)
	4431.	Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics. [electronic resource] by Brendel, Cornelia Klahold, Edith Gärtner, Jutta Huppke, Peter Producer: 20090924 In: Pediatric research vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4432.	Changes in the activity of the multifunctional beta-glycosyl hydrolase (Cel44C-Man26A) from Paenibacillus polymyxa by removal of the C-terminal region to minimum size. [electronic resource] by Cho, Kye-Man Math, Renukaradhya K Hong, Su-Young Asraful Islam, Shah Md Kim, Jong-Ok Hong, Sun-Joo Kim, Hoon Yun, Han-Dae Producer: 20080701 In: Biotechnology letters vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4433.	Identification of nonsense mutations in hepatitis B virus S gene in patients with hepatocellular carcinoma developed after lamivudine therapy. [electronic resource] by Lai, Ming-Wei Huang, Shiu-Feng Hsu, Chao-Wei Chang, Mei-Hui Liaw, Yun-Fan Yeh, Chau-Ting Producer: 20090617 In: Antiviral therapy vol. 14 Availability: No items available. Save to lists Add to cart (remove)
	4434.	A novel nonsense mutation Y652X in the S6/pore region of human ether-go-go gene found in a long QT syndrome family. [electronic resource] by Sun, Yaxun Zhang, Ping Li, Xuebin Zhang, Haicheng Li, Jiwen Liu, Gang Guo, Jihong Producer: 20090821 In: Scandinavian cardiovascular journal : SCJ vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4435.	Degeneration of an intracellular ion channel in the primate lineage by relaxation of selective constraints. [electronic resource] by Cai, Xinjiang Patel, Sandip Producer: 20110124 In: Molecular biology and evolution vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4436.	Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. [electronic resource] by Abdel-Wahab, Omar Mullally, Ann Hedvat, Cyrus Garcia-Manero, Guillermo Patel, Jay Wadleigh, Martha Malinge, Sebastien Yao, JinJuan Kilpivaara, Outi Bhat, Rukhmi Huberman, Kety Thomas, Sabrena Dolgalev, Igor Heguy, Adriana Paietta, Elisabeth Le Beau, Michelle M Beran, Miloslav Tallman, Martin S Ebert, Benjamin L Kantarjian, Hagop M Stone, Richard M Gilliland, D Gary Crispino, John D Levine, Ross L Producer: 20090724 In: Blood vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4437.	Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. [electronic resource] by Cabral, Rita M Liu, Lu Hogan, Carol Dopping-Hepenstal, Patricia J C Winik, Beatriz C Asial, Raúl A Dobson, Richard Mein, Charles A Baselaga, Patricia A Mellerio, Jemima E Nanda, Arti Boente, Maria del Carmen Kelsell, David P McGrath, John A South, Andrew P Producer: 20100615 In: The Journal of investigative dermatology vol. 130 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4438.	Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. [electronic resource] by Siemiatkowska, Anna M Astuti, Galuh D N Arimadyo, Kentar den Hollander, Anneke I Faradz, Sultana M H Cremers, Frans P M Collin, Rob W J Producer: 20130129 In: Molecular vision vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	4439.	KDM6A point mutations cause Kabuki syndrome. [electronic resource] by Miyake, Noriko Mizuno, Seiji Okamoto, Nobuhiko Ohashi, Hirofumi Shiina, Masaaki Ogata, Kazuhiro Tsurusaki, Yoshinori Nakashima, Mitsuko Saitsu, Hirotomo Niikawa, Norio Matsumoto, Naomichi Producer: 20130701 In: Human mutation vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4440.	Molecular analysis of lipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family. [electronic resource] by Nasir, Muhammad Latif, Amir Ajmal, Muhammad Qamar, Reem Naeem, Muhammad Hameed, Abdul Producer: 20111129 In: Diagnostic pathology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 5852 results.