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	2301.	Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus. [electronic resource] by Sansbury, Francis H Kirel, Birgül Caswell, Richard Allen, Hana Lango Lango Allen, Hana Flanagan, Sarah E Hattersley, Andrew T Ellard, Sian Shaw-Smith, Charles J Producer: 20160824 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2302.	The first mitochondrial genome for the superfamily Hagloidea and implications for its systematic status in Ensifera. [electronic resource] by Zhou, Zhijun Shi, Fuming Zhao, Ling Producer: 20141029 In: PloS one vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2303.	Alagille syndrome associated with intestinal atresia. [electronic resource] by González Pastor, Sara Montraveta Querol, Montserrat Del Alcazar Muñoz, Ricard Ojanguren Sabán, Maria Isabel Pintos Morell, Guillem Quintero Bernabeu, Jesus Juamperez Goñi, Javier Sala Llinas, Margarita Producer: 20180102 In: Gastroenterologia y hepatologia vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2304.	A kind of rd1 mouse in C57BL/6J mice from crossing with a mutated Kunming mouse. [electronic resource] by Yan, Weiming Yao, Lu Liu, Wei Sun, Kai Zhang, ZuoMing Zhang, Lei Producer: 20170214 In: Gene vol. 607 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2305.	Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome. [electronic resource] by Cain, Jacob T Kim, Dae I Quast, Megan Shivega, Winnie G Patrick, Ryan J Moser, Chuanpit Reuter, Suzanne Perez, Myrza Myers, Angela Weimer, Jill M Roux, Kyle J Landsverk, Megan Producer: 20170508 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2306.	Culture adaptation of malaria parasites selects for convergent loss-of-function mutants. [electronic resource] by Claessens, Antoine Affara, Muna Assefa, Samuel A Kwiatkowski, Dominic P Conway, David J Producer: 20181029 In: Scientific reports vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2307.	Glucocorticoid resistance syndrome caused by two novel mutations in the NR3C1 gene. [electronic resource] by Velayos, Teresa Grau, Gema Rica, Itxaso Pérez-Nanclares, Gustavo Gaztambide, Sonia Producer: 20171120 In: Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2308.	Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45. [electronic resource] by Straussberg, Rachel Onoufriadis, Alexandros Konen, Osnat Zouabi, Yasmin Cohen, Lior Lee, John Y W Hsu, Chao-Kai Simpson, Michael A McGrath, John A Producer: 20180605 In: American journal of medical genetics. Part A vol. 173 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2309.	ICE1 promotes the link between splicing and nonsense-mediated mRNA decay. [electronic resource] by Baird, Thomas D Cheng, Ken Chih-Chien Chen, Yu-Chi Buehler, Eugen Martin, Scott E Inglese, James Hogg, J Robert Producer: 20190701 In: eLife vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2310.	Severe phenotype of junctional epidermolysis bullosa generalised intermediate type caused by homozygous COL17A1:c.505C>T (p.Arg169*) mutation. [electronic resource] by Vaz, Sara O Dâmaso, Catarina Liu, Lu Ozoemena, Linda Mota-Vieira, Luisa Producer: 20190514 In: European journal of dermatology : EJD vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2311.	Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy. [electronic resource] by Ribeiro, Joana Rebelo, Olinda Fernández-Marmiesse, Ana Negrão, Luís Producer: 20181211 In: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology vol. 37 Availability: No items available. Save to lists Add to cart (remove)
	2312.	Characterization of BRCA1 and BRCA2 genetic variants in a cohort of Bahraini breast cancer patients using next-generation sequencing. [electronic resource] by Al Hannan, Fatima Keogh, Michael B Taha, Safa Al Buainain, Latifa Producer: 20200522 In: Molecular genetics & genomic medicine vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2313.	CRISPR-Based Adenine Editors Correct Nonsense Mutations in a Cystic Fibrosis Organoid Biobank. [electronic resource] by Geurts, Maarten H de Poel, Eyleen Amatngalim, Gimano D Oka, Rurika Meijers, Fleur M Kruisselbrink, Evelien van Mourik, Peter Berkers, Gitte de Winter-de Groot, Karin M Michel, Sabine Muilwijk, Danya Aalbers, Bente L Mullenders, Jasper Boj, Sylvia F Suen, Sylvia W F Brunsveld, Jesse E Janssens, Hettie M Mall, Marcus A Graeber, Simon Y van Boxtel, Ruben van der Ent, Cornelis K Beekman, Jeffrey M Clevers, Hans Producer: 20210427 In: Cell stem cell vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2314.	Abnormally spliced beta-globin mRNAs: a single point mutation generates transcripts sensitive and insensitive to nonsense-mediated mRNA decay. [electronic resource] by Danckwardt, Sven Neu-Yilik, Gabriele Thermann, Rolf Frede, Ute Hentze, Matthias W Kulozik, Andreas E Producer: 20020516 In: Blood vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2315.	Qualitative and quantitative analysis of mRNA associated with four putative splicing mutations (621+3A-->G, 2751+2T-->A, 296+1G-->C, 1717-9T-->C-D565G) and one nonsense mutation (E822X) in the CFTR gene. [electronic resource] by Tzetis, M Efthymiadou, A Doudounakis, S Kanavakis, E Producer: 20020215 In: Human genetics vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2316.	Denaturing HPLC procedure for factor IX gene scanning. [electronic resource] by Castaldo, Giuseppe Nardiello, Paola Bellitti, Fabiana Rocino, Angiola Coppola, Antonio di Minno, Giovanni Salvatore, Francesco Producer: 20030513 In: Clinical chemistry vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2317.	Molecular basis of lipoid proteinosis in a Libyan family. [electronic resource] by Chan, I El-Zurghany, A Zendah, B Benghazil, M Oyama, N Hamada, T McGrath, J A Producer: 20031030 In: Clinical and experimental dermatology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2318.	[Suppression of nonsense and frameshift mutations obtained by different methods for inactivating the translation termination factor eRF3 in yeast Saccharomyces cerevisiae]. [electronic resource] by Zadorskiĭ, S P Borkhsenius, A S Sopova, Iu V Startsev, V A Inge-Vechtomov, S G Producer: 20030804 In: Genetika vol. 39 Availability: No items available. Save to lists Add to cart (remove)
	2319.	Griscelli syndrome: Rab 27a mutation. [electronic resource] by Sheela, S R Latha, Manoj Injody, Susy J Producer: 20041102 In: Indian pediatrics vol. 41 Availability: No items available. Save to lists Add to cart (remove)
	2320.	Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. [electronic resource] by Rivolta, Carlo McGee, Terri L Rio Frio, Thomas Jensen, Roderick V Berson, Eliot L Dryja, Thaddeus P Producer: 20060807 In: Human mutation vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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