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	4961.	AUG sequences are required to sustain nonsense-codon-mediated suppression of splicing. [electronic resource] by Kamhi, Eyal Yahalom, Galit Kass, Gideon Hacham, Yael Sperling, Ruth Sperling, Joseph Producer: 20060809 In: Nucleic acids research vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4962.	A novel mutation in the NF1 gene in two siblings with neurofibromatosis type 1 and bilateral optic pathway glioma. [electronic resource] by Kebudi, Rejin Tuncer, Samuray Upadhyaya, Meena Peksayar, Gonul Spurlock, Gill Yazici, Hulya Producer: 20080212 In: Pediatric blood & cancer vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4963.	NeuN/Rbfox3 nuclear and cytoplasmic isoforms differentially regulate alternative splicing and nonsense-mediated decay of Rbfox2. [electronic resource] by Dredge, B Kate Jensen, Kirk B Producer: 20111104 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4964.	Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. [electronic resource] by van Blitterswijk, Marka van Vught, Paul W J van Es, Michael A Schelhaas, Helenius J van der Kooi, Anneke J de Visser, Marianne Veldink, Jan H van den Berg, Leonard H Producer: 20121123 In: Neurobiology of aging vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4965.	Two isoforms of HOXA9 function differently but work synergistically in human MLL-rearranged leukemia. [electronic resource] by He, Miao Chen, Ping Arnovitz, Stephen Li, Yuanyuan Huang, Hao Neilly, Mary Beth Wei, Minjie Rowley, Janet D Chen, Jianjun Li, Zejuan Producer: 20121214 In: Blood cells, molecules & diseases vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4966.	Transposon insertion in a cinnamyl alcohol dehydrogenase gene is responsible for a brown midrib1 mutation in maize. [electronic resource] by Chen, Wei VanOpdorp, Nathan Fitzl, Dennis Tewari, Jagdish Friedemann, Peter Greene, Tom Thompson, Steve Kumpatla, Siva Zheng, Peizhong Producer: 20121120 In: Plant molecular biology vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4967.	Complete Apo AI deficiency in an Iraqi Mandaean family: case studies and review of the literature. [electronic resource] by Al-Sarraf, Ahmad Al-Ghofaili, Khalid Sullivan, David R Wasan, Kishor M Hegele, Robert Frohlich, Jiri Producer: 20110712 In: Journal of clinical lipidology vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4968.	Germline Brca2 heterozygosity promotes Kras(G12D) -driven carcinogenesis in a murine model of familial pancreatic cancer. [electronic resource] by Skoulidis, Ferdinandos Cassidy, Liam D Pisupati, Venkat Jonasson, Jon G Bjarnason, Hordur Eyfjord, Jorunn E Karreth, Florian A Lim, Michael Barber, Lorraine M Clatworthy, Susan A Davies, Susan E Olive, Kenneth P Tuveson, David A Venkitaraman, Ashok R Producer: 20101216 In: Cancer cell vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4969.	Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene. [electronic resource] by Uusimaa, Johanna Evans, Julie Smith, Conrad Butterworth, Anna Craig, Kate Ashley, Neil Liao, Chunyan Carver, Janet Diot, Alan Macleod, Lorna Hargreaves, Iain Al-Hussaini, Abdulrahman Faqeih, Eissa Asery, Ali Al Balwi, Mohammed Eyaid, Wafaa Al-Sunaid, Areej Kelly, Deirdre van Mourik, Indra Ball, Sarah Jarvis, Joanna Mulay, Arundhati Hadzic, Nedim Samyn, Marianne Baker, Alastair Rahman, Shamima Stewart, Helen Morris, Andrew Am Seller, Anneke Fratter, Carl Taylor, Robert W Poulton, Joanna Producer: 20150120 In: European journal of human genetics : EJHG vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4970.	Hereditary gene mutations in Korean patients with isolated erythrocytosis. [electronic resource] by Jang, Ja-Hyun Seo, Ja Young Jang, Junho Jung, Chul Won Lee, Ki-O Kim, Sun-Hee Kim, Hee-Jin Producer: 20140623 In: Annals of hematology vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4971.	Brugada syndrome and p.E61X_RANGRF. [electronic resource] by Campuzano, Oscar Berne, Paola Selga, Elisabeth Allegue, Catarina Iglesias, Anna Brugada, Josep Brugada, Ramon Producer: 20160418 In: Cardiology journal vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4972.	Transcobalamin II Deficiency in Four Cases with Novel Mutations. [electronic resource] by Ünal, Şule Rupar, Tony Yetgin, Sevgi Yaralı, Neşe Dursun, Ali Gürsel, Türkiz Çetin, Mualla Producer: 20170118 In: Turkish journal of haematology : official journal of Turkish Society of Haematology vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4973.	Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells. [electronic resource] by Bezzerri, Valentino Bardelli, Donatella Morini, Jacopo Vella, Antonio Cesaro, Simone Sorio, Claudio Biondi, Andrea Danesino, Cesare Farruggia, Piero Assael, Baroukh Maurice D'amico, Giovanna Cipolli, Marco Producer: 20190503 In: American journal of hematology vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4974.	Aminoglycoside-mediated promotion of translation readthrough occurs through a non-stochastic mechanism that competes with translation termination. [electronic resource] by Chowdhury, H M Siddiqui, M A Kanneganti, S Sharmin, N Chowdhury, M W Nasim, M Talat Producer: 20190103 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4975.	Tbx20 drives cardiac progenitor formation and cardiomyocyte proliferation in zebrafish. [electronic resource] by Lu, Fei Langenbacher, Adam Chen, Jau-Nian Producer: 20170606 In: Developmental biology vol. 421 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4976.	Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1. [electronic resource] by Das, Anirban Ghosh, Priya Zameer, Lateef Ramprasad, Vedam L Bhaduri, Anirban Producer: 20191125 In: Pediatric hematology and oncology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4977.	A clinical and genetic study of 16 Japanese families with Waardenburg syndrome. [electronic resource] by Minami, Shujiro B Nara, Kiyomitsu Mutai, Hideki Morimoto, Noriko Sakamoto, Hirokazu Takiguchi, Tetsuya Kaga, Kimitaka Matsunaga, Tatsuo Producer: 20190618 In: Gene vol. 704 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4978.	Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. [electronic resource] by Verbakel, Sanne K van Huet, Ramon A C den Hollander, Anneke I Geerlings, Maartje J Kersten, Eveline Klevering, B Jeroen Klaver, Caroline C W Plomp, Astrid S Wesseling, Nieneke L Bergen, Arthur A B Nikopoulos, Konstantinos Rivolta, Carlo Ikeda, Yasuhiro Sonoda, Koh-Hei Wada, Yuko Boon, Camiel J F Nakazawa, Toru Hoyng, Carel B Nishiguchi, Koji M Producer: 20190823 In: Investigative ophthalmology & visual science vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4979.	Highly efficient RNA-guided base editing in rabbit. [electronic resource] by Liu, Zhiquan Chen, Mao Chen, Siyu Deng, Jichao Song, Yuning Lai, Liangxue Li, Zhanjun Producer: 20181213 In: Nature communications vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4980.	A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family. [electronic resource] by Chen, Jia Yuan, Huizhen Xie, Kang Wang, Xinrong Tan, Linglong Zou, Yongyi Yang, Yan Pan, Lu Xiao, Junfang Chen, Ge Liu, Yanqiu Producer: 20201013 In: BMC cardiovascular disorders vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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