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	3201.	A nonsense mutation in CHCHD2 in a patient with Parkinson disease. [electronic resource] by Koschmidder, Eva Weissbach, Anne Brüggemann, Norbert Kasten, Meike Klein, Christine Lohmann, Katja Producer: 20160720 In: Neurology vol. 86 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3202.	Development of a high-copy-number plasmid via adaptive laboratory evolution of Corynebacterium glutamicum. [electronic resource] by Choi, Jae Woong Yim, Sung Sun Jeong, Ki Jun Producer: 20190212 In: Applied microbiology and biotechnology vol. 102 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3203.	Correlation between FIX genotype and pharmacokinetics of Nonacog alpha according to a multicentre Italian study. [electronic resource] by Morfini, M Dragani, A Paladino, E Radossi, P Di Minno, G Mazzucconi, M G Rossetti, G Barillari, G Napolitano, M Tagariello, G Producer: 20170223 In: Haemophilia : the official journal of the World Federation of Hemophilia vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3204.	Robust Stimulation of W1282X-CFTR Channel Activity by a Combination of Allosteric Modulators. [electronic resource] by Wang, Wei Hong, Jeong S Rab, Andras Sorscher, Eric J Kirk, Kevin L Producer: 20160802 In: PloS one vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3205.	The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome. [electronic resource] by Hossain, Mohammad Arif Yanagisawa, Hiroko Miyajima, Takashi Wu, Chen Takamura, Ayumi Akiyama, Keiko Itagaki, Rina Eto, Kaoru Iwamoto, Takeo Yokoi, Takayuki Kurosawa, Kenji Numabe, Hironao Eto, Yoshikatsu Producer: 20170829 In: Molecular genetics and metabolism vol. 120 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3206.	Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency. [electronic resource] by Mandola, Amarilla B Levy, Jacov Nahum, Amit Hadad, Nurit Levy, Rachel Rylova, Anna Simon, Amos J Lev, Atar Somech, Raz Broides, Arnon Producer: 20190820 In: Immunological investigations vol. 48 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3207.	A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome. [electronic resource] by Wang, Yan-Gong Sun, Shu-Ping Qiu, Yi-Ling Xing, Qing-He Lu, Wei Producer: 20190415 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3208.	Whole exome sequencing identified a pathogenic nonsense mutation in LMNA in a family with a progressive cardiac conduction defect: A case report. [electronic resource] by Fan, Peng Zhang, Di Yang, Kun-Qi Tian, Tao Luo, Fang Liu, Ya-Xin Wang, Lin-Ping Zhou, Xian-Liang Producer: 20210212 In: Molecular medicine reports vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3209.	Preferential expression of an intact WRN gene in Werner syndrome cell lines in which a normal chromosome 8 has been introduced. [electronic resource] by Kashino, G Kodama, S Suzuki, K Oshimura, M Watanabe, M Producer: 20011227 In: Biochemical and biophysical research communications vol. 289 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3210.	Nonsense-mediated decay: assaying for effects on selenoprotein mRNAs. [electronic resource] by Sun, Xiaolei Maquat, Lynne E Producer: 20020809 In: Methods in enzymology vol. 347 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3211.	Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene. [electronic resource] by Hummel, Marybeth Cunningham, David Mullett, Charles J Kelley, Richard I Herman, Gail E Producer: 20040422 In: American journal of medical genetics. Part A vol. 122A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3212.	Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. [electronic resource] by Whittock, Neil V Wan, Hong Morley, Susan M Garzon, Maria C Kristal, Leonard Hyde, Patrice McLean, W H Irwin Pulkkinen, Leena Uitto, Juoni Christiano, Angela M Eady, Robin A J McGrath, John A Producer: 20020327 In: The Journal of investigative dermatology vol. 118 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3213.	Phenotypic variability of aprataxin gene mutations. [electronic resource] by Tranchant, C Fleury, M Moreira, M C Koenig, M Warter, J M Producer: 20040209 In: Neurology vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3214.	Targeting of aberrant mRNAs to cytoplasmic processing bodies. [electronic resource] by Sheth, Ujwal Parker, Roy Producer: 20060803 In: Cell vol. 125 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3215.	Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. [electronic resource] by Kwon, Jennifer M Rothberg, Paul G Leman, Adam R Weimer, Jill M Mink, Jonathan W Pearce, David A Producer: 20051021 In: Neuroscience letters vol. 387 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3216.	Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease. [electronic resource] by Gromadzka, G Schmidt, H H-J Genschel, J Bochow, B Rodo, M Tarnacka, B Litwin, T Chabik, G Członkowska, A Producer: 20060615 In: Clinical genetics vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3217.	Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. [electronic resource] by Cederquist, K Emanuelsson, M Wiklund, F Golovleva, I Palmqvist, R Grönberg, H Producer: 20060615 In: Clinical genetics vol. 68 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3218.	Quantitative microarray profiling provides evidence against widespread coupling of alternative splicing with nonsense-mediated mRNA decay to control gene expression. [electronic resource] by Pan, Qun Saltzman, Arneet L Kim, Yoon Ki Misquitta, Christine Shai, Ofer Maquat, Lynne E Frey, Brendan J Blencowe, Benjamin J Producer: 20060309 In: Genes & development vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3219.	Genetic analysis of oculocutaneous albinism type 1 (OCA1) in Indian families: two novel frameshift mutations in the TYR Gene. [electronic resource] by Sundaresan, Periasamy Sil, Asim Kumar Philp, Alisdair R Randolph, Mary A Natchiar, Govindappa Namperumalsamy, Perumalsamy Producer: 20050818 In: Molecular vision vol. 10 Availability: No items available. Save to lists Add to cart (remove)
	3220.	Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. [electronic resource] by Molho-Pessach, Vered Bargal, Ruth Abramowitz, Yigal Doviner, Victoria Ingber, Arieh Raas-Rothschild, Annick Ne'eman, Zvi Zeigler, Marsha Zlotogorski, Abraham Producer: 20070918 In: Journal of the American Academy of Dermatology vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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