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	3461.	Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. [electronic resource] by Ullah, Rahim Ansar, Muhammad Durrani, Zaka Ullah Lee, Kwanghyuk Santos-Cortez, Regie Lyn P Muhammad, Dost Ali, Mahboob Zia, Muhammad Ayub, Muhammad Khan, Suliman Smith, Josh D Nickerson, Deborah A Shendure, Jay Bamshad, Michael Leal, Suzanne M Ahmad, Wasim Producer: 20170111 In: International journal of dermatology vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3462.	A novel, homozygous nonsense variant of the CDHR1 gene in a Chinese family causes autosomal recessive retinal dystrophy by NGS-based genetic diagnosis. [electronic resource] by Fu, Jiewen Ma, Lu Cheng, Jingliang Yang, Lisha Wei, Chunli Fu, Shangyi Lv, Hongbin Chen, Rui Fu, Junjiang Producer: 20191209 In: Journal of cellular and molecular medicine vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3463.	The Pub1 and Upf1 Proteins Act in Concert to Protect Yeast from Toxicity of the [PSI⁺] Prion. [electronic resource] by Urakov, Valery N Mitkevich, Olga V Dergalev, Alexander A Ter-Avanesyan, Michael D Producer: 20190225 In: International journal of molecular sciences vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3464.	PTC-bearing mRNA elicits a genetic compensation response via Upf3a and COMPASS components. [electronic resource] by Ma, Zhipeng Zhu, Peipei Shi, Hui Guo, Liwei Zhang, Qinghe Chen, Yanan Chen, Shuming Zhang, Zhe Peng, Jinrong Chen, Jun Producer: 20191202 In: Nature vol. 568 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3465.	NKX2-6 related congenital heart disease: Biallelic homeodomain-disrupting variants and truncus arteriosus. [electronic resource] by Ritter, Alyssa Werner, Petra Latney, Brande Krock, Bryon L Santani, Avni Bedoukian, Emma Skraban, Cara M Deardorff, Matthew A Goldmuntz, Elizabeth Producer: 20210128 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3466.	A common variant of the AMPD1 gene predicts improved cardiovascular survival in patients with coronary artery disease. [electronic resource] by Anderson, J L Habashi, J Carlquist, J F Muhlestein, J B Horne, B D Bair, T L Pearson, R R Hart, N Producer: 20001026 In: Journal of the American College of Cardiology vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3467.	gbpC and pac gene mutations detected in Streptococcus mutans strain GS-5. [electronic resource] by Sato, Y Okamoto, K Kizaki, H Producer: 20021112 In: Oral microbiology and immunology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3468.	Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. [electronic resource] by Bernal, S Ayuso, C Antiñolo, G Gimenez, A Borrego, S Trujillo, M J Marcos, I Calaf, M Del Rio, E Baiget, M Producer: 20030221 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3469.	Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary. [electronic resource] by Kida, M Ariga, T Shirakawa, T Oguchi, H Sakiyama, Y Producer: 20021127 In: Journal of dental research vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3470.	Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. [electronic resource] by Brown, Pamela Scobie, Graeme A Townsend, Julie Bayne, Rosemary A L Seckl, Jonathan R Saunders, Philippa T K Anderson, Richard A Producer: 20030327 In: The Journal of clinical endocrinology and metabolism vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3471.	A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI. [electronic resource] by Pajunen, L Suokas, M Hautala, T Kellokumpu, S Tebbe, B Kivirikko, K I Myllylä, R Producer: 19980317 In: DNA and cell biology vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3472.	Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria. [electronic resource] by Nakazato, H Yoshimuta, J Karashima, S Matsumoto, S Endo, F Matsuda, I Hattori, S Producer: 19990217 In: Kidney international vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3473.	Arabidopsis UPF1 RNA helicase for nonsense-mediated mRNA decay is involved in seed size control and is essential for growth. [electronic resource] by Yoine, Masato Nishii, Terumi Nakamura, Kenzo Producer: 20060911 In: Plant & cell physiology vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3474.	The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. [electronic resource] by Eeds, A M Hall, L D Yadav, M Willis, A Summar, S Putnam, A Barr, F Summar, M L Producer: 20061031 In: Molecular genetics and metabolism vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3475.	Discovery and consequences of apolipoprotein-epsilon(3Groningen): a G-insertion in codon 95/96 that is predicted to cause a premature stop codon. [electronic resource] by Dijck-Brouwer, D A Janneke van Doormaal, Jasper J Kema, Ido P Brugman, Astrid M Kingma, Anneke W Muskiet, Frits A J Producer: 20050830 In: Annals of clinical biochemistry vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3476.	Genetics terminology for respiratory physicians. [electronic resource] by Collins, Felicity A Producer: 20091022 In: Paediatric respiratory reviews vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3477.	Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients. [electronic resource] by Conte, Chiara Gambardella, Stefano Bulli, Cristina Rinaldi, Fabrizio Di Marino, Daniele Falconi, Mattia Bramanti, Placido Desideri, Alessandro Novelli, Giuseppe Producer: 20081211 In: Genetic testing vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3478.	The Epstein-Barr virus (EBV)-encoded protein kinase, EBV-PK, but not the thymidine kinase (EBV-TK), is required for ganciclovir and acyclovir inhibition of lytic viral production. [electronic resource] by Meng, Qiao Hagemeier, Stacy R Fingeroth, Joyce D Gershburg, Edward Pagano, Joseph S Kenney, Shannon C Producer: 20100421 In: Journal of virology vol. 84 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3479.	Genotype-phenotype correlation in Italian children with Wilson's disease. [electronic resource] by Nicastro, Emanuele Loudianos, Georgios Zancan, Lucia D'Antiga, Lorenzo Maggiore, Giuseppe Marcellini, Matilde Barbera, Cristiana Marazzi, Maria Grazia Francavilla, Ruggiero Pastore, Maria Vajro, Pietro D'Ambrosi, Mariangela Vegnente, Angela Ranucci, Giusy Iorio, Raffaele Producer: 20090729 In: Journal of hepatology vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3480.	Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. [electronic resource] by Laumonnier, F Shoubridge, C Antar, C Nguyen, L S Van Esch, H Kleefstra, T Briault, S Fryns, J P Hamel, B Chelly, J Ropers, H H Ronce, N Blesson, S Moraine, C Gécz, J Raynaud, M Producer: 20101018 In: Molecular psychiatry vol. 15 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.