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	3501.	Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. [electronic resource] by McKie, Arthur B Alsaedi, Atif Vogt, Julie Stuurman, Kyra E Weiss, Marjan M Shakeel, Hassan Tee, Louise Morgan, Neil V Nikkels, Peter G J van Haaften, Gijs Park, Soo-Mi van der Smagt, Jasper J Bugiani, Marianna Maher, Eamonn R Producer: 20151026 In: Acta neuropathologica communications vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3502.	Emergence of Highly Pathogenic Avian Influenza A(H5N1) Virus PB1-F2 Variants and Their Virulence in BALB/c Mice. [electronic resource] by Kamal, Ram P Kumar, Amrita Davis, Charles T Tzeng, Wen-Pin Nguyen, Tung Donis, Ruben O Katz, Jacqueline M York, Ian A Producer: 20150727 In: Journal of virology vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3503.	DMD transcript imbalance determines dystrophin levels. [electronic resource] by Spitali, Pietro van den Bergen, Janneke C Verhaart, Ingrid E C Wokke, Beatrijs Janson, Anneke A M van den Eijnde, Rani den Dunnen, Johan T Laros, Jeroen F J Verschuuren, Jan J G M 't Hoen, Peter A C Aartsma-Rus, Annemieke Producer: 20140204 In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3504.	Evolution of an attenuated HIV-1 isolate in an elite suppressor. [electronic resource] by Salgado, Maria Gandhi, Shiv Buckheit, Robert W Berkenblit, Gail V Blankson, Joel N Producer: 20141017 In: AIDS research and human retroviruses vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3505.	High frequency of complex mutational patterns in lamivudine resistant hepatitis B virus isolates. [electronic resource] by Neumann-Fraune, Maria Beggel, Bastian Pfister, Herbert Kaiser, Rolf Verheyen, Jens Producer: 20130904 In: Journal of medical virology vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3506.	The Coding Regions of Germline mRNAs Confer Sensitivity to Argonaute Regulation in C. elegans. [electronic resource] by Seth, Meetu Shirayama, Masaki Tang, Wen Shen, En-Zhi Tu, Shikui Lee, Heng-Chi Weng, Zhiping Mello, Craig C Producer: 20190618 In: Cell reports vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3507.	Combining Sense and Nonsense Codon Reassignment for Site-Selective Protein Modification with Unnatural Amino Acids. [electronic resource] by Cui, Zhenling Mureev, Sergey Polinkovsky, Mark E Tnimov, Zakir Guo, Zhong Durek, Thomas Jones, Alun Alexandrov, Kirill Producer: 20171127 In: ACS synthetic biology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3508.	Identification of a novel HLA-B44 allele, HLA-B44:237N, in a Chinese individual. [electronic resource] by Qiang, W Zhu, Y-Y Shen, G Zou, J Producer: 20180118 In: HLA vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3509.	Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. [electronic resource] by Preuss, Christoph Capredon, Melanie Wünnemann, Florian Chetaille, Philippe Prince, Andrea Godard, Beatrice Leclerc, Severine Sobreira, Nara Ling, Hua Awadalla, Philip Thibeault, Maryse Khairy, Paul Samuels, Mark E Andelfinger, Gregor Producer: 20170509 In: PLoS genetics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3510.	Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent. [electronic resource] by Clarridge, Katherine Leitenberg, David Loechelt, Brett Picard, Capuchine Keller, Michael Producer: 20161019 In: Journal of clinical immunology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3511.	De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. [electronic resource] by de Lange, Iris M Helbig, Katherine L Weckhuysen, Sarah Møller, Rikke S Velinov, Milen Dolzhanskaya, Natalia Marsh, Eric Helbig, Ingo Devinsky, Orrin Tang, Sha Mefford, Heather C Myers, Candace T van Paesschen, Wim Striano, Pasquale van Gassen, Koen van Kempen, Marjan de Kovel, Carolien G F Piard, Juliette Minassian, Berge A Nezarati, Marjan M Pessoa, André Jacquette, Aurelia Maher, Bridget Balestrini, Simona Sisodiya, Sanjay Warde, Marie Therese Abi De St Martin, Anne Chelly, Jamel van 't Slot, Ruben Van Maldergem, Lionel Brilstra, Eva H Koeleman, Bobby P C Producer: 20170825 In: Journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3512.	Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis. [electronic resource] by Sharma, Neeraj Evans, Taylor A Pellicore, Matthew J Davis, Emily Aksit, Melis A McCague, Allison F Joynt, Anya T Lu, Zhongzhu Han, Sangwoo T Anzmann, Arianna F Lam, Anh-Thu N Thaxton, Abigail West, Natalie Merlo, Christian Gottschalk, Laura B Raraigh, Karen S Sosnay, Patrick R Cotton, Calvin U Cutting, Garry R Producer: 20190208 In: PLoS genetics vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3513.	NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. [electronic resource] by Schanze, Ina Bunt, Jens Lim, Jonathan W C Schanze, Denny Dean, Ryan J Alders, Marielle Blanchet, Patricia Attié-Bitach, Tania Berland, Siren Boogert, Steven Boppudi, Sangamitra Bridges, Caitlin J Cho, Megan T Dobyns, William B Donnai, Dian Douglas, Jessica Earl, Dawn L Edwards, Timothy J Faivre, Laurence Fregeau, Brieana Genevieve, David Gérard, Marion Gatinois, Vincent Holder-Espinasse, Muriel Huth, Samuel F Izumi, Kosuke Kerr, Bronwyn Lacaze, Elodie Lakeman, Phillis Mahida, Sonal Mirzaa, Ghayda M Morgan, Sian M Nowak, Catherine Peeters, Hilde Petit, Florence Pilz, Daniela T Puechberty, Jacques Reinstein, Eyal Rivière, Jean-Baptiste Santani, Avni B Schneider, Anouck Sherr, Elliott H Smith-Hicks, Constance Wieland, Ilse Zackai, Elaine Zhao, Xiaonan Gronostajski, Richard M Zenker, Martin Richards, Linda J Producer: 20190514 In: American journal of human genetics vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3514.	Listeria monocytogenes isolates from ready to eat plant produce are diverse and have virulence potential. [electronic resource] by Smith, Alva Hearn, Jack Taylor, Clare Wheelhouse, Nick Kaczmarek, Maciej Moorhouse, Edwin Singleton, Ian Producer: 20190531 In: International journal of food microbiology vol. 299 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3515.	Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing. [electronic resource] by Zarepour, Narges Koohiyan, Mahbobeh Taghipour-Sheshdeh, Afsaneh Nemati-Zargaran, Fatemeh Saki, Nader Mohammadi-Asl, Javad Tabatabaiefar, Mohammad Amin Hashemzadeh-Chaleshtori, Morteza Producer: 20200219 In: Audiology & neuro-otology vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3516.	Lysosomal ceroid depletion by drugs: therapeutic implications for a hereditary neurodegenerative disease of childhood. [electronic resource] by Zhang, Z Butler, J D Levin, S W Wisniewski, K E Brooks, S S Mukherjee, A B Producer: 20010426 In: Nature medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3517.	Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. [electronic resource] by Nakagawa, M Matsuzaki, T Suehara, M Kanzato, N Takashima, H Higuchi, I Matsumura, T Goto, K Arahata, K Osame, M Producer: 20010524 In: Journal of the neurological sciences vol. 184 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3518.	A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. [electronic resource] by Stella, A Wagner, A Shito, K Lipkin, S M Watson, P Guanti, G Lynch, H T Fodde, R Liu, B Producer: 20011018 In: Cancer research vol. 61 Availability: No items available. Save to lists Add to cart (remove)
	3519.	A novel homozygous splice junction mutation in GPIIb associated with alternative splicing, nonsense-mediated decay of GPIIb-mRNA, and type II Glanzmann's thrombasthenia. [electronic resource] by González-Manchón, C Arias-Salgado, E G Butta, N Martín, G Rodríguez, R B Elalamy, I Parrilla, R Favier, R Producer: 20040116 In: Journal of thrombosis and haemostasis : JTH vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3520.	Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. [electronic resource] by Feldmann, Jérôme Le Deist, Françoise Ouachée-Chardin, Marie Certain, Stéphanie Alexander, Sarah Quartier, Pierre Haddad, Elie Wulffraat, Nico Casanova, Jean Laurent Blanche, Stéphane Fischer, Alain de Saint Basile, Geneviève Producer: 20020910 In: British journal of haematology vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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