Your search returned 5852 results.

Results
	4841.	Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion. [electronic resource] by Vu, Dung Bolton-Maggs, Paula H B Parr, Jeremy R Morris, Michael A de Moerloose, Philippe Neerman-Arbez, Marguerite Producer: 20040121 In: Blood vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4842.	Assay of locus-specific genetic load implicates rare Toll-like receptor 4 mutations in meningococcal susceptibility. [electronic resource] by Smirnova, Irina Mann, Navjiwan Dols, Annemiek Derkx, H H Hibberd, Martin L Levin, Michael Beutler, Bruce Producer: 20030701 In: Proceedings of the National Academy of Sciences of the United States of America vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4843.	Protein-truncating mutations in ASPM cause variable reduction in brain size. [electronic resource] by Bond, Jacquelyn Scott, Sheila Hampshire, Daniel J Springell, Kelly Corry, Peter Abramowicz, Marc J Mochida, Ganesh H Hennekam, Raoul C M Maher, Eamonn R Fryns, Jean-Pierre Alswaid, Abdulrahman Jafri, Hussain Rashid, Yasmin Mubaidin, Ammar Walsh, Christopher A Roberts, Emma Woods, C Geoffrey Producer: 20040819 In: American journal of human genetics vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4844.	Mutation and polymorphism analysis of TSC1 and TSC2 genes in Indian patients with tuberous sclerosis complex. [electronic resource] by Ali, M Girimaji, S C Markandaya, M Shukla, A K Sacchidanand, S Kumar, A Producer: 20050323 In: Acta neurologica Scandinavica vol. 111 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4845.	[ATM gene mutations in Chinese patients with ataxia telangiectasia]. [electronic resource] by Jiang, Hong Tang, Beisha Hu, Zhengmao Xia, Kun Xu, Bo Tang, Jianguang Shen, Lu Producer: 20090402 In: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 22 Availability: No items available. Save to lists Add to cart (remove)
	4846.	SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway. [electronic resource] by Fukuhara, Noemi Ebert, Judith Unterholzner, Leonie Lindner, Doris Izaurralde, Elisa Conti, Elena Producer: 20050329 In: Molecular cell vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4847.	Chinese hamster cell mutant, V-C8, a model for analysis of Brca2 function. [electronic resource] by Wiegant, Wouter W Overmeer, René M Godthelp, Barbara C van Buul, Paul P W Zdzienicka, Małgorzata Z Producer: 20061019 In: Mutation research vol. 600 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4848.	Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation. [electronic resource] by Krumbholz, M Koehler, K Huebner, A Producer: 20060825 In: Biochemistry and cell biology = Biochimie et biologie cellulaire vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4849.	Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families. [electronic resource] by Riazuddin, S Amer Zulfiqar, Fareeha Zhang, Qingjiong Sergeev, Yuri V Qazi, Zaheeruddin A Husnain, Tayyab Caruso, Rafael Riazuddin, Sheikh Sieving, Paul A Hejtmancik, J Fielding Producer: 20050811 In: Investigative ophthalmology & visual science vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4850.	Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome. [electronic resource] by Chan, Sherine S L Longley, Matthew J Naviaux, Robert K Copeland, William C Producer: 20060203 In: DNA repair vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4851.	Evolution of nef variants in gut associated lymphoid tissue of rhesus macaques during primary simian immunodeficiency virus infection. [electronic resource] by Ndolo, Thomas Syvanen, Michael Ellison, Thomas Dandekar, Satya Producer: 20060119 In: Virology vol. 343 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4852.	Precore/core promoter mutations and genotypes of hepatitis B virus in chronic hepatitis B patients with fulminant or subfulminant hepatitis. [electronic resource] by Liu, Chun-Jen Kao, Jia-Horng Lai, Ming-Yang Chen, Pei-Jer Chen, Ding-Shinn Producer: 20040430 In: Journal of medical virology vol. 72 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4853.	A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. [electronic resource] by Rubio, Juan C Garcia-Consuegra, Ines Nogales-Gadea, Gisela Blazquez, Alberto Cabello, Ana Lucia, Alejandro Andreu, Antoni L Arenas, Joaquin Martin, Miguel A Producer: 20070228 In: Human mutation vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4854.	BRCA1 E1644X: a deleterious mutation in an African American individual with early onset breast cancer. [electronic resource] by Martin, S Eric Sausen, Mark Joseph, Abraham Biggs, David D Kingham, Brewster F Martin, Eric S Producer: 20090206 In: Breast cancer research and treatment vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4855.	Readthrough of dystrophin stop codon mutations induced by aminoglycosides. [electronic resource] by Howard, Michael T Anderson, Christine B Fass, Uwe Khatri, Shikha Gesteland, Raymond F Atkins, John F Flanigan, Kevin M Producer: 20040412 In: Annals of neurology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4856.	A patient with Baller-Gerold syndrome and midline NK/T lymphoma. [electronic resource] by Debeljak, Marusa Zver, Aleksandra Jazbec, Janez Producer: 20090617 In: American journal of medical genetics. Part A vol. 149A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4857.	A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome. [electronic resource] by Fendri-Kriaa, Nourhène Abdelkafi, Zaineb Rebeh, Imen Ben Kamoun, Fatma Triki, Chahnez Fakhfakh, Faiza Producer: 20090615 In: Genetic testing and molecular biomarkers vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4858.	Autosomal recessive Bethlem myopathy. [electronic resource] by Gualandi, F Urciuolo, A Martoni, E Sabatelli, P Squarzoni, S Bovolenta, M Messina, S Mercuri, E Franchella, A Ferlini, A Bonaldo, P Merlini, L Producer: 20091222 In: Neurology vol. 73 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4859.	COPD is associated with a macrophage scavenger receptor-1 gene sequence variation. [electronic resource] by Ohar, Jill A Hamilton, Raymond F Zheng, Siqun Sadeghnejad, Alireza Sterling, David A Xu, Jianfeng Meyers, Deborah A Bleecker, Eugene R Holian, Andrij Producer: 20100615 In: Chest vol. 137 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4860.	Control of target gene specificity during metamorphosis by the steroid response gene E93. [electronic resource] by Mou, Xiaochun Duncan, Dianne M Baehrecke, Eric H Duncan, Ian Producer: 20120412 In: Proceedings of the National Academy of Sciences of the United States of America vol. 109 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.