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	261.	Splicing fidelity: DEAD/H-box ATPases as molecular clocks. [electronic resource] by Koodathingal, Prakash Staley, Jonathan P Producer: 20140326 In: RNA biology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	262.	Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. [electronic resource] by Jain, V Metherell, L A David, A Sharma, R Sharma, P K Clark, A J L Chan, L F Producer: 20120103 In: European journal of endocrinology vol. 165 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	263.	A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes. [electronic resource] by Holl, Heather M Brooks, Samantha A Carpenter, Meredith L Bustamante, Carlos D Lafayette, Christa Producer: 20180524 In: Animal genetics vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	264.	Interplay between Alternative Splicing and Alternative Polyadenylation Defines the Expression Outcome of the Plant Unique OXIDATIVE TOLERANT-6 Gene. [electronic resource] by Li, Qingshun Q Liu, Zhaoyang Lu, Wenjia Liu, Man Producer: 20181211 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	265.	Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed. [electronic resource] by Fenn, Joe Boursnell, Mike Hitti, Rebekkah J Jenkins, Christopher A Terry, Rebecca L Priestnall, Simon L Kenny, Patrick J Mellersh, Cathryn S Forman, Oliver P Producer: 20170913 In: BMC genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	266.	Tissue Restricted Splice Junctions Originate Not Only from Tissue-Specific Gene Loci, but Gene Loci with a Broad Pattern of Expression. [electronic resource] by Hestand, Matthew S Zeng, Zheng Coleman, Stephen J Liu, Jinze MacLeod, James N Producer: 20160706 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	267.	Most human introns are recognized via multiple and tissue-specific branchpoints. [electronic resource] by Pineda, Jose Mario Bello Bradley, Robert K Producer: 20180608 In: Genes & development vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	268.	Nucleosomes are preferentially positioned at exons in somatic and sperm cells. [electronic resource] by Nahkuri, Satu Taft, Ryan J Mattick, John S Producer: 20091221 In: Cell cycle (Georgetown, Tex.) vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	269.	Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase. [electronic resource] by Loren, David J Campos, Yvan d'Azzo, Alessandra Wyble, Lance Grange, Dorothy K Gilbert-Barness, Enid White, Frances V Hamvas, Aaron Producer: 20051206 In: Journal of perinatology : official journal of the California Perinatal Association vol. 25 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	270.	A double-reporter splicing assay for determining splicing efficiency in mammalian cells. [electronic resource] by Nasim, Md Talat Eperon, Ian C Producer: 20070921 In: Nature protocols vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	271.	A novel insertion variant of the human IL-23 receptor-alpha chain transcript. [electronic resource] by Mancini, G Kan, S-h Gallagher, G Producer: 20081027 In: Genes and immunity vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	272.	Circular RNAs: diversity of form and function. [electronic resource] by Lasda, Erika Parker, Roy Producer: 20150410 In: RNA (New York, N.Y.) vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	273.	Genome-wide analysis of alternative splicing in Volvox carteri. [electronic resource] by Kianianmomeni, Arash Ong, Cheng Soon Rätsch, Gunnar Hallmann, Armin Producer: 20150812 In: BMC genomics vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	274.	Splice site mutation in factor X gene manifesting as severe intracranial haemorrhage in neonatal period with a challenging treatment course. [electronic resource] by Madhusoodhan, P P Lu, B Y Chen, J Jones, C L Meyer, J A Roman, E A Nardi, M Carroll, W L Bhatla, T Producer: 20180910 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	275.	A Patient with Berardinelli-Seip Syndrome, Novel [electronic resource] by Oswiecimska, Joanna Dawidziuk, Mateusz Gambin, Tomasz Ziora, Katarzyna Marek, Marta Rzonca, Sylwia Guilbride, D. Lys Jhangiani, Shalini N Obuchowicz, Anna Sikora, Alicja Lupski, James R Wiszniewski, Wojciech Gawlinski, Pawel Producer: 20200311 In: Journal of clinical research in pediatric endocrinology vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	276.	A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease. [electronic resource] by Malekkou, Anna Sevastou, Ioanna Mavrikiou, Gavriella Georgiou, Theodoros Vilageliu, Lluisa Moraitou, Marina Michelakakis, Helen Prokopiou, Chrystalla Drousiotou, Anthi Producer: 20210329 In: Molecular genetics & genomic medicine vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	277.	Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients. [electronic resource] by Kilinç, Mehmet Okyay Ninis, Vasiliki Ninidu Dağli, Elif Demirkol, Mübeccel Ozkinay, Ferda Arikan, Zeliha Coğulu, Ozgür Hüner, Gülden Karakoç, Fazilet Tolun, Aslihan Producer: 20030501 In: American journal of medical genetics vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	278.	[Disease-causing mutations versus neutral polymorphism: use of bioinformatics and DNA diagnosis]. [electronic resource] by Machácková, E Producer: 20030626 In: Casopis lekaru ceskych vol. 142 Availability: No items available. Save to lists Add to cart (remove)
	279.	Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1. [electronic resource] by Andrew, M Barr, M Davies, E Wallace, A M Connell, J M Ahmed, S F Producer: 20070918 In: Clinical endocrinology vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	280.	Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis. [electronic resource] by Tsubota, Akiko Akiyama, Masashi Sakai, Kaori Goto, Maki Nomura, Yukiko Ando, Satomi Abe, Masataka Sawamura, Daisuke Shimizu, Hiroshi Producer: 20070619 In: The Journal of investigative dermatology vol. 127 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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