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	981.	A c.1363C>T (p.R455X) nonsense mutation of RB1 gene in a southern Chinese retinoblastoma pedigree. [electronic resource] by Chen, Chun-Yue Xu, Chen-Ming Du, Zhen-Fang Chen, Xiao-Ling Ren, Guo-Liang Zhang, Xian-Ning Producer: 20100729 In: Genetic testing and molecular biomarkers vol. 14 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	982.	Novel human pathological mutations. Gene symbol: OA1. Disease: albinism, ocular. [electronic resource] by Martinez-Garcia, Monica Trujillo-Tiebas, M J Villaverde, C López-Martínez, M A Ayuso, C Producer: 20090414 In: Human genetics vol. 125 Availability: No items available. Save to lists Add to cart (remove)
	983.	Bilateral and symmetrical palmoplantar punctate keratoses in childhood: a possible clinical clue for an early diagnosis of PTEN hamartoma-tumour syndrome. [electronic resource] by Ferran, M Bussaglia, E Matias-Guiu, X Pujol, R M Producer: 20090727 In: Clinical and experimental dermatology vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	984.	Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome. [electronic resource] by Shi, Xiuyu Yasumoto, Sawa Nakagawa, Eiji Fukasawa, Tatsuya Uchiya, Satoshi Hirose, Shinichi Producer: 20091117 In: Brain & development vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	985.	Synonymous codon usage in Escherichia coli: selection for translational accuracy. [electronic resource] by Stoletzki, Nina Eyre-Walker, Adam Producer: 20070516 In: Molecular biology and evolution vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	986.	Molecular evolution of rbcL in the mycoheterotrophic coralroot orchids (Corallorhiza Gagnebin, Orchidaceae). [electronic resource] by Barrett, Craig F Freudenstein, John V Producer: 20080718 In: Molecular phylogenetics and evolution vol. 47 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	987.	Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. [electronic resource] by Brunetti-Pierri, Nicola Esposito, Valentina De Brasi, Daniele Mattiacci, Dario Maria Krakow, Deborah Lee, Brendan Salerno, Mariacarolina Producer: 20080522 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	988.	Out-of-frame T cell receptor beta transcripts are eliminated by multiple pathways in vivo. [electronic resource] by Mahowald, Grace K Mahowald, Michael A Moon, Clara Khor, Bernard Sleckman, Barry P Producer: 20111109 In: PloS one vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	989.	WT1 mutations may be a cause of severe renal failure due to nephroblastomatosis in Wilms' tumor patients. [electronic resource] by Santín, S Fraga, G Ruíz, P Pardo, N Torrent, M Martí, T Ballarín, J Ars, E Torra, R Producer: 20111004 In: Clinical nephrology vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	990.	A novel LAMA3 mutation in a newborn with junctional epidermolysis bullosa herlitz type. [electronic resource] by Mazzucchelli, Iolanda Garofoli, Francesca Decembrino, Lidia Castiglia, Daniele Tadini, Gianluca Bellingeri, Andrea Borghesi, Alessandro Tzialla, Chryssoula Manzoni, Paolo Stronati, Mauro Producer: 20110803 In: Neonatology vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	991.	High immunoglobulin E in a Chinese Papillon-Lefèvre syndrome patient with novel compound mutations of cathepsin C. [electronic resource] by Wen, Xuan Wang, Xinwen Duan, Xiaohong Producer: 20121025 In: The Journal of dermatology vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	992.	Molecular characterization of 16 hemophilia B families in Aragon, Spain. [electronic resource] by Arias-Moreno, Xabier Catalina, Silvia S Rubio, Rebeca Aguilar, Carlos Lucía, Jose F Producer: 20140514 In: Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	993.	[Dermatopathia pigmentosa reticularis]. [electronic resource] by Gallouj, S Benchat, L Sekal, S Harmouch, T Amarti, A Mernissi, F Z Producer: 20150119 In: Annales de dermatologie et de venereologie vol. 141 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	994.	De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. [electronic resource] by Arboleda, Valerie A Lee, Hane Dorrani, Naghmeh Zadeh, Neda Willis, Mary Macmurdo, Colleen Forsyth Manning, Melanie A Kwan, Andrea Hudgins, Louanne Barthelemy, Florian Miceli, M Carrie Quintero-Rivera, Fabiola Kantarci, Sibel Strom, Samuel P Deignan, Joshua L Grody, Wayne W Vilain, Eric Nelson, Stanley F Producer: 20150512 In: American journal of human genetics vol. 96 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	995.	Role of SMG-1-mediated Upf1 phosphorylation in mammalian nonsense-mediated mRNA decay. [electronic resource] by Yamashita, Akio Producer: 20130805 In: Genes to cells : devoted to molecular & cellular mechanisms vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	996.	Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature. [electronic resource] by Lee, J W Kim, Y J Kang, J Shin, T J Hyun, H-K Kim, Y-J Lee, S-H Lee, Z H Kim, J-W Producer: 20181221 In: Oral diseases vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	997.	Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother. [electronic resource] by Taniguchi-Ikeda, Mariko Takeshima, Yasuhiro Lee, Tomoko Nishiyama, Masahiro Awano, Hiroyuki Yagi, Mariko Unzaki, Ai Nozu, Kandai Nishio, Hisahide Matsuo, Masafumi Kurahashi, Hiroki Toda, Tatsushi Morioka, Ichiro Iijima, Kazumoto Producer: 20170330 In: Journal of human genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	998.	A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. [electronic resource] by Winczewska-Wiktor, Anna Badura-Stronka, Magdalena Monies-Nowicka, Anna Nowicki, Michal Maciej Steinborn, Barbara Latos-Bieleńska, Anna Monies, Dorota Producer: 20160815 In: BMC neurology vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	999.	A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism. [electronic resource] by Tejada, María-Isabel Elcoroaristizabal, Xabier Ibarluzea, Nekane Botella, María-Pilar de la Hoz, Ana-Belén Ocio, Intzane Producer: 20200330 In: Clinical genetics vol. 95 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1000.	Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique. [electronic resource] by Chen, Yu Lu, Yu Kuyaxi, Pilidong Cheng, Jing Zhao, Juan Zhao, Qi Musha, Patiguli Zhang, Hua Yuan, Huijun Producer: 20180918 In: Disease markers vol. 2018 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.