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	4381.	Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. [electronic resource] by van Wijk, R Nieuwenhuis, K van den Berg, M Huizinga, E G van der Meijden, B B Kraaijenhagen, R J van Solinge, W W Producer: 20010802 In: Blood vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4382.	Novel HOXA13 mutations and the phenotypic spectrum of hand-foot-genital syndrome. [electronic resource] by Goodman, F R Bacchelli, C Brady, A F Brueton, L A Fryns, J P Mortlock, D P Innis, J W Holmes, L B Donnenfeld, A E Feingold, M Beemer, F A Hennekam, R C Scambler, P J Producer: 20000807 In: American journal of human genetics vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4383.	Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. [electronic resource] by Holzinger, Andreas Maier, Esther M Bück, Cornelius Mayerhofer, Peter U Kappler, Matthias Haworth, James C Moroz, Stanley P Hadorn, Hans-Beat Sadler, J Evan Roscher, Adelbert A Producer: 20020125 In: American journal of human genetics vol. 70 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4384.	ABCC6 gene polymorphism associated with variation in plasma lipoproteins. [electronic resource] by Wang, J Near, S Young, K Connelly, P W Hegele, R A Producer: 20020208 In: Journal of human genetics vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4385.	Demystified. Human endogenous retroviruses. [electronic resource] by Nelson, P N Carnegie, P R Martin, J Davari Ejtehadi, H Hooley, P Roden, D Rowland-Jones, S Warren, P Astley, J Murray, P G Producer: 20030512 In: Molecular pathology : MP vol. 56 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4386.	Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome. [electronic resource] by Matsukawa, R Iida, K Nakayama, M Mukai, T Okita, Y Ando, M Takamoto, S Nakajima, N Morisaki, H Morisaki, T Producer: 20010222 In: Human mutation vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4387.	Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease. [electronic resource] by Gámez, Josep Rubio, Juan C Martín, Miguel A Fernández-Cadenas, Israel Garcia-Arumi, Elena Andreu, Antoni L Arenas, Joaquín Producer: 20030926 In: Muscle & nerve vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4388.	Nonsense mutations in mitochondrial DNA associated with myalgia and exercise intolerance. [electronic resource] by Pulkes, T Liolitsa, D Wills, A J Hargreaves, I Heales, S Hanna, M G Producer: 20060222 In: Neurology vol. 64 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4389.	[Mutational analysis of breast/ovarian cancer hereditary predisposition gene BRCA1 in Tunisian women]. [electronic resource] by Mestiri, S Monastiri, K Ben Ahmed, S Bouaouina, N Presneau, N Bignon, Y J Khairi, H Chouchane, L Producer: 20031219 In: Archives de l'Institut Pasteur de Tunis vol. 77 Availability: No items available. Save to lists Add to cart (remove)
	4390.	WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12. [electronic resource] by Balabanian, Karl Lagane, Bernard Pablos, José Luis Laurent, Lysiane Planchenault, Thierry Verola, Olivier Lebbe, Celeste Kerob, Delphine Dupuy, Alain Hermine, Olivier Nicolas, Jean-François Latger-Cannard, Véronique Bensoussan, Danièle Bordigoni, Pierre Baleux, Françoise Le Deist, Françoise Virelizier, Jean-Louis Arenzana-Seisdedos, Fernando Bachelerie, Françoise Producer: 20060707 In: Blood vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4391.	Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome. [electronic resource] by Schanen, Carolyn Houwink, Elisa J F Dorrani, Naghmeh Lane, Jane Everett, Ruth Feng, Alice Cantor, Rita M Percy, Alan Producer: 20040503 In: American journal of medical genetics. Part A vol. 126A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4392.	Environmental factors and colorectal tumor risk in individuals with hereditary nonpolyposis colorectal cancer. [electronic resource] by Diergaarde, Brenda Braam, Hanneke Vasen, Hans F Nagengast, Fokko M van Muijen, Goos N P Kok, Frans J Kampman, Ellen Producer: 20071130 In: Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4393.	Alternatively spliced T-cell receptor transcripts are up-regulated in response to disruption of either splicing elements or reading frame. [electronic resource] by Chang, Yao-Fu Chan, Wai-Kin Imam, J Saadi Wilkinson, Miles F Producer: 20071127 In: The Journal of biological chemistry vol. 282 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4394.	Genotype-phenotype aspects of type 2 long QT syndrome. [electronic resource] by Shimizu, Wataru Moss, Arthur J Wilde, Arthur A M Towbin, Jeffrey A Ackerman, Michael J January, Craig T Tester, David J Zareba, Wojciech Robinson, Jennifer L Qi, Ming Vincent, G Michael Kaufman, Elizabeth S Hofman, Nynke Noda, Takashi Kamakura, Shiro Miyamoto, Yoshihiro Shah, Samit Amin, Vinit Goldenberg, Ilan Andrews, Mark L McNitt, Scott Producer: 20091209 In: Journal of the American College of Cardiology vol. 54 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4395.	A Q312X mutation in the hemojuvelin gene is associated with cardiomyopathy due to juvenile haemochromatosis. [electronic resource] by Nagayoshi, Yasuhiro Nakayama, Masafumi Suzuki, Satoru Hokamaki, Jun Shimomura, Hideki Tsujita, Kenichi Fukuda, Masaya Yamashita, Takuro Nakamura, Yoshinori Sugiyama, Seigo Ogawa, Hisao Producer: 20090211 In: European journal of heart failure vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4396.	Identification of ARHGEF17, DENND2D, FGFR3, and RB1 mutations in melanoma by inhibition of nonsense-mediated mRNA decay. [electronic resource] by Bloethner, Sandra Mould, Arne Stark, Mitchell Hayward, Nicholas K Producer: 20081208 In: Genes, chromosomes & cancer vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4397.	Isolation of an operon involved in xylitol metabolism from a xylitol-utilizing Pantoea ananatis mutant. [electronic resource] by Sakakibara, Yoshikiyo Saha, Badal C Producer: 20090326 In: Journal of bioscience and bioengineering vol. 106 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4398.	Dual coding in alternative reading frames correlates with intrinsic protein disorder. [electronic resource] by Kovacs, Erika Tompa, Peter Liliom, Karoly Kalmar, Lajos Producer: 20100416 In: Proceedings of the National Academy of Sciences of the United States of America vol. 107 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4399.	The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse. [electronic resource] by Wang, Dan Belakhov, Valery Kandasamy, Jeyakumar Baasov, Timor Li, Su-Chen Li, Yu-Teh Bedwell, David M Keeling, Kim M Producer: 20120531 In: Molecular genetics and metabolism vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4400.	Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls. [electronic resource] by Fawcett, Katherine A Murphy, Sinead M Polke, James M Wray, Selina Burchell, Victoria S Manji, Hadi Quinlivan, Ros M Zdebik, Anselm A Reilly, Mary M Houlden, Henry Producer: 20130116 In: Journal of neurology, neurosurgery, and psychiatry vol. 83 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.