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	3161.	Targeted knockout of the Rickettsia rickettsii OmpA surface antigen does not diminish virulence in a mammalian model system. [electronic resource] by Noriea, Nicholas F Clark, Tina R Hackstadt, Ted Producer: 20151214 In: mBio vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3162.	Phenotype-genotype correlations for clinical variants caused by CYLD mutations. [electronic resource] by Nagy, Nikoletta Farkas, Katalin Kemény, Lajos Széll, Márta Producer: 20160216 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3163.	Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. [electronic resource] by de Vries, Liat Behar, Doron M Smirin-Yosef, Pola Lagovsky, Irina Tzur, Shay Basel-Vanagaite, Lina Producer: 20150122 In: The Journal of clinical endocrinology and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3164.	Clinical spectrum and molecular basis of recessive congenital methemoglobinemia in India. [electronic resource] by Warang, P P Kedar, P S Shanmukaiah, C Ghosh, K Colah, R B Producer: 20150820 In: Clinical genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3165.	Nifedipine in Congenital Hyperinsulinism - A Case Report. [electronic resource] by Khawash, Papiya Hussain, Khalid Flanagan, Sarah E Chatterjee, Sudip Basak, Dhananjoy Producer: 20160523 In: Journal of clinical research in pediatric endocrinology vol. 7 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3166.	Five novel CNGB3 gene mutations in Polish patients with achromatopsia. [electronic resource] by Wawrocka, Anna Kohl, Susanne Baumann, Britta Walczak-Sztulpa, Joanna Wicher, Katarzyna Skorczyk-Werner, Anna Krawczynski, Maciej R Producer: 20151208 In: Molecular vision vol. 20 Availability: No items available. Save to lists Add to cart (remove)
	3167.	Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study. [electronic resource] by Obermannova, Barbora Sumnik, Zdenek Dusatkova, Petra Cinek, Ondrej Grant, Michael Lebl, Jan Hendy, Geoffrey N Producer: 20160629 In: European journal of endocrinology vol. 174 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3168.	A frame shift due to a two-nucleotide insertion results in the an HLA-B null allele, B*39:97N. [electronic resource] by Wang, W Zhang, W He, J Xu, J Zhu, F-M Producer: 20180118 In: HLA vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3169.	Evidence of post-transcriptional readthrough regulation in FGF5 gene of alpaca. [electronic resource] by Pallotti, Stefano Pediconi, Dario Subramanian, Dharaneedharan Molina, María Gabriela Antonini, Marco Morelli, Maria Beatrice Renieri, Carlo La Terza, Antonietta Producer: 20180209 In: Gene vol. 647 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3170.	Studying Nonsense-Mediated mRNA Decay in Mammalian Cells Using a Multicolored Bioluminescence-Based Reporter System. [electronic resource] by Nickless, Andrew You, Zhongsheng Producer: 20180717 In: Methods in molecular biology (Clifton, N.J.) vol. 1720 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3171.	Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. [electronic resource] by Allou, L Julia, S Amsallem, D El Chehadeh, S Lambert, L Thevenon, J Duffourd, Y Saunier, A Bouquet, P Pere, S Moustaïne, A Ruaud, L Roth, V Jonveaux, P Philippe, C Producer: 20170630 In: Clinical genetics vol. 91 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3172.	Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. [electronic resource] by Lyu, Xiaodong Guo, Zhen Li, Yangwei Fan, Ruihua Song, Yongping Producer: 20190225 In: BMC medical genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3173.	A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in patients with arrhythmogenic cardiomyopathy. [electronic resource] by Poloni, Giulia Calore, Martina Rigato, Ilaria Marras, Elena Minervini, Giovanni Mazzotti, Elisa Lorenzon, Alessandra Li Mura, Ilena Egle Astrid Telatin, Andrea Zara, Ivano Simionati, Barbara Perazzolo Marra, Martina Ponti, Jessica Occhi, Gianluca Vitiello, Libero Daliento, Luciano Thiene, Gaetano Basso, Cristina Corrado, Domenico Tosatto, Silvio Bauce, Barbara Rampazzo, Alessandra De Bortoli, Marzia Producer: 20201002 In: Heart rhythm vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3174.	Base pair editing in goat: nonsense codon introgression into FGF5 results in longer hair. [electronic resource] by Li, Guanwei Zhou, Shiwei Li, Chao Cai, Bei Yu, Honghao Ma, Baohua Huang, Yu Ding, Yige Liu, Yao Ding, Qiang He, Chong Zhou, Jiankui Wang, Ying Zhou, Guangxian Li, Yan Yan, Yuan Hua, Jinlian Petersen, Bjoern Jiang, Yu Sonstegard, Tad Huang, Xingxu Chen, Yulin Wang, Xiaolong Producer: 20200615 In: The FEBS journal vol. 286 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3175.	VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. [electronic resource] by Beetz, Christian Ameziane, Najim Kdissa, Ameni Karageorgou, Vasiliki Bauer, Peter Suleiman, Jehan Sutton, V Reid El-Hattab, Ayman W Producer: 20210603 In: Clinical genetics vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3176.	Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes. [electronic resource] by Morak, Monika Schaefer, Kerstin Steinke-Lange, Verena Koehler, Udo Keinath, Susanne Massdorf, Trisari Mauracher, Brigitte Rahner, Nils Bailey, Jessica Kling, Christiane Haeusser, Tanja Laner, Andreas Holinski-Feder, Elke Producer: 20200717 In: European journal of human genetics : EJHG vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3177.	Mammalian nonsense codons can be cis effectors of nuclear mRNA half-life. [electronic resource] by Belgrader, P Cheng, J Zhou, X Stephenson, L S Maquat, L E Producer: 19941220 In: Molecular and cellular biology vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3178.	A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family. [electronic resource] by Turco, A E Rossetti, S Bresin, E Corra, S Gammaro, L Maschio, G Pignatti, P F Producer: 19951215 In: Human molecular genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3179.	Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. [electronic resource] by Medghalchi, S M Frischmeyer, P A Mendell, J T Kelly, A G Lawler, A M Dietz, H C Producer: 20010315 In: Human molecular genetics vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3180.	Mutations of the APC gene in human sporadic colorectal cancers. [electronic resource] by De Filippo, C Luceri, C Caderni, G Pacini, M Messerini, L Biggeri, A Mini, E Tonelli, F Cianchi, F Dolara, P Producer: 20030203 In: Scandinavian journal of gastroenterology vol. 37 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 5852 results.