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	5821.	The pioneer translation initiation complex is functionally distinct from but structurally overlaps with the steady-state translation initiation complex. [electronic resource] by Chiu, Shang-Yi Lejeune, Fabrice Ranganathan, Aparna C Maquat, Lynne E Producer: 20040511 In: Genes & development vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5822.	Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. [electronic resource] by Sancho-Shimizu, Vanessa Pérez de Diego, Rebeca Lorenzo, Lazaro Halwani, Rabih Alangari, Abdullah Israelsson, Elisabeth Fabrega, Sylvie Cardon, Annabelle Maluenda, Jerome Tatematsu, Megumi Mahvelati, Farhad Herman, Melina Ciancanelli, Michael Guo, Yiqi AlSum, Zobaida Alkhamis, Nouf Al-Makadma, Abdulkarim S Ghadiri, Ata Boucherit, Soraya Plancoulaine, Sabine Picard, Capucine Rozenberg, Flore Tardieu, Marc Lebon, Pierre Jouanguy, Emmanuelle Rezaei, Nima Seya, Tsukasa Matsumoto, Misako Chaussabel, Damien Puel, Anne Zhang, Shen-Ying Abel, Laurent Al-Muhsen, Saleh Casanova, Jean-Laurent Producer: 20120131 In: The Journal of clinical investigation vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5823.	A common novel splice variant of SLC22A1 (OCT1) is associated with impaired responses to imatinib in patients with chronic myeloid leukaemia. [electronic resource] by Grinfeld, Jacob Gerrard, Gareth Alikian, Mary Alonso-Dominguez, Juan Ale, Sakuntala Valgañon, Mikel Nteliopoulos, Georgios White, Deborah Marin, David Hedgley, Corinne O'Brien, Stephen Clark, Richard Goldman, John M Milojkovic, Dragana Apperley, Jane F Foroni, Letizia Producer: 20140121 In: British journal of haematology vol. 163 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5824.	Non-invasive anterior segment and posterior segment optical coherence tomography and phenotypic characterization of aniridia. [electronic resource] by Gregory-Evans, Kevin Cheong-Leen, Richard George, Sheena M Xie, Judy Moosajee, Mariya Colapinto, Patricio Gregory-Evans, Cheryl Y Producer: 20111216 In: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie vol. 46 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5825.	Cellular mutants define a common mRNA degradation pathway targeting cytokine AU-rich elements. [electronic resource] by Stoecklin, G Stoeckle, P Lu, M Muehlemann, O Moroni, C Producer: 20011210 In: RNA (New York, N.Y.) vol. 7 Availability: No items available. Save to lists Add to cart (remove)
	5826.	Loss of Smad4 function in pancreatic tumors: C-terminal truncation leads to decreased stability. [electronic resource] by Maurice, D Pierreux, C E Howell, M Wilentz, R E Owen, M J Hill, C S Producer: 20011226 In: The Journal of biological chemistry vol. 276 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5827.	Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. [electronic resource] by Agrawal, Nishant Frederick, Mitchell J Pickering, Curtis R Bettegowda, Chetan Chang, Kyle Li, Ryan J Fakhry, Carole Xie, Tong-Xin Zhang, Jiexin Wang, Jing Zhang, Nianxiang El-Naggar, Adel K Jasser, Samar A Weinstein, John N Treviño, Lisa Drummond, Jennifer A Muzny, Donna M Wu, Yuanqing Wood, Laura D Hruban, Ralph H Westra, William H Koch, Wayne M Califano, Joseph A Gibbs, Richard A Sidransky, David Vogelstein, Bert Velculescu, Victor E Papadopoulos, Nickolas Wheeler, David A Kinzler, Kenneth W Myers, Jeffrey N Producer: 20110907 In: Science (New York, N.Y.) vol. 333 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5828.	ASXL1 mutation correction by CRISPR/Cas9 restores gene function in leukemia cells and increases survival in mouse xenografts. [electronic resource] by Valletta, Simona Dolatshad, Hamid Bartenstein, Matthias Yip, Bon Ham Bello, Erica Gordon, Shanisha Yu, Yiting Shaw, Jacqueline Roy, Swagata Scifo, Laura Schuh, Anna Pellagatti, Andrea Fulga, Tudor A Verma, Amit Boultwood, Jacqueline Producer: 20161107 In: Oncotarget vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5829.	Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. [electronic resource] by Gómez-Garre, P Gutiérrez-Delicado, E Gómez-Abad, C Morales-Corraliza, J Villanueva, V E Rodríguez de Córdoba, S Larrauri, J Gutiérrez, M Berciano, J Serratosa, J M Producer: 20070510 In: Neurology vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5830.	Inhibition of nonsense-mediated RNA decay by ER stress. [electronic resource] by Li, Zhelin Vuong, John K Zhang, Min Stork, Cheryl Zheng, Sika Producer: 20170908 In: RNA (New York, N.Y.) vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5831.	Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. [electronic resource] by Knöll, Ralph Postel, Ruben Wang, Jianming Krätzner, Ralph Hennecke, Gerrit Vacaru, Andrei M Vakeel, Padmanabhan Schubert, Cornelia Murthy, Kenton Rana, Brinda K Kube, Dieter Knöll, Gudrun Schäfer, Katrin Hayashi, Takeharu Holm, Torbjorn Kimura, Akinori Schork, Nicholas Toliat, Mohammad Reza Nürnberg, Peter Schultheiss, Heinz-Peter Schaper, Wolfgang Schaper, Jutta Bos, Erik Den Hertog, Jeroen van Eeden, Fredericus J M Peters, Peter J Hasenfuss, Gerd Chien, Kenneth R Bakkers, Jeroen Producer: 20070830 In: Circulation vol. 116 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5832.	A novel gastrokine, Gkn3, marks gastric atrophy and shows evidence of adaptive gene loss in humans. [electronic resource] by Menheniott, Trevelyan R Peterson, Anthony J O'Connor, Louise Lee, Kai Syin Kalantzis, Anastasia Kondova, Ivanela Bontrop, Ronald E Bell, Katrina M Giraud, Andrew S Producer: 20100507 In: Gastroenterology vol. 138 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5833.	Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. [electronic resource] by Buonuomo, Paola Sabrina Iughetti, Lorenzo Pisciotta, Livia Rabacchi, Claudio Papadia, Francesco Bruzzi, Patrizia Tummolo, Albina Bartuli, Andrea Cortese, Claudio Bertolini, Stefano Calandra, Sebastiano Producer: 20180129 In: Atherosclerosis vol. 262 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5834.	Expression of subunits for the cAMP-sensitive 'olfactory' cyclic nucleotide-gated ion channel in the cochlea: implications for signal transduction. [electronic resource] by Drescher, Marian J Barretto, Roberto L Chaturvedi, Deepti Beisel, Kirk W Hatfield, James S Khan, Khalid M Drescher, Dennis G Producer: 20020429 In: Brain research. Molecular brain research vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5835.	The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit. [electronic resource] by Tian, Mengnan Macdonald, Robert L Producer: 20120625 In: The Journal of neuroscience : the official journal of the Society for Neuroscience vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5836.	Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. [electronic resource] by Verastegui, C Bille, K Ortonne, J P Ballotti, R Producer: 20001113 In: The Journal of biological chemistry vol. 275 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5837.	Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. [electronic resource] by Moss, Arthur J Shimizu, Wataru Wilde, Arthur A M Towbin, Jeffrey A Zareba, Wojciech Robinson, Jennifer L Qi, Ming Vincent, G Michael Ackerman, Michael J Kaufman, Elizabeth S Hofman, Nynke Seth, Rahul Kamakura, Shiro Miyamoto, Yoshihiro Goldenberg, Ilan Andrews, Mark L McNitt, Scott Producer: 20070607 In: Circulation vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5838.	Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies. [electronic resource] by Dotta, Laura Notarangelo, Lucia Dora Moratto, Daniele Kumar, Rajesh Porta, Fulvio Soresina, Annarosa Lougaris, Vassilios Plebani, Alessandro Smith, C I Edvard Norlin, Anna-Carin Gòmez Raccio, Andrea Cecilia Bubanska, Eva Bertolini, Patrizia Amendola, Giovanni Visentini, Marcella Fiorilli, Massimo Venuti, Aldo Badolato, Raffaele Producer: 20200817 In: The journal of allergy and clinical immunology. In practice vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5839.	Identification and selective degradation of neopeptide-containing truncated mutant proteins in the tumors with high microsatellite instability. [electronic resource] by Kim, Won Kyu Park, Misun Park, Minhee Kim, Yun Ji Shin, Nara Kim, Hyun Ki You, Kwon Tae Kim, Hoguen Producer: 20140128 In: Clinical cancer research : an official journal of the American Association for Cancer Research vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5840.	Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. [electronic resource] by Brunklaus, Andreas Du, Juanjiangmeng Steckler, Felix Ghanty, Ismael I Johannesen, Katrine M Fenger, Christina Dühring Schorge, Stephanie Baez-Nieto, David Wang, Hao-Ran Allen, Andrew Pan, Jen Q Lerche, Holger Heyne, Henrike Symonds, Joseph D Zuberi, Sameer M Sanders, Stephan Sheidley, Beth R Craiu, Dana Olson, Heather E Weckhuysen, Sarah DeJonge, Peter Helbig, Ingo Van Esch, Hilde Busa, Tiffany Milh, Matthieu Isidor, Bertrand Depienne, Christel Poduri, Annapurna Campbell, Arthur J Dimidschstein, Jordane Møller, Rikke S Lal, Dennis Producer: 20201019 In: Epilepsia vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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