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	3001.	Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. [electronic resource] by Fu, Yong-Juan Aida, Izumi Tada, Masayoshi Tada, Mari Toyoshima, Yasuko Takeda, Shigeki Nakajima, Takashi Naito, Haruhiko Nishizawa, Masatoyo Onodera, Osamu Kakita, Akiyoshi Takahashi, Hitoshi Producer: 20150226 In: Neuropathology and applied neurobiology vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3002.	Novel mutation of OCRL1 in Lowe syndrome. [electronic resource] by Liu, Ting Yue, Zhihui Wang, Haiyan Tong, Huajuan Sun, Liangzhong Producer: 20161110 In: Indian journal of pediatrics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3003.	Resistance of mRNAs with AUG-proximal nonsense mutations to nonsense-mediated decay reflects variables of mRNA structure and translational activity. [electronic resource] by Pereira, Francisco J C Teixeira, Alexandre Kong, Jian Barbosa, Cristina Silva, Ana Luísa Marques-Ramos, Ana Liebhaber, Stephen A Romão, Luísa Producer: 20151020 In: Nucleic acids research vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3004.	Translational readthrough potential of natural termination codons in eucaryotes--The impact of RNA sequence. [electronic resource] by Dabrowski, Maciej Bukowy-Bieryllo, Zuzanna Zietkiewicz, Ewa Producer: 20160712 In: RNA biology vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3005.	Molecular characterization of Hb Hamilton Hill (HBA2: c.388delC), a novel HBA2 variant generating a premature termination codon and truncated HBA2 chain. [electronic resource] by Qadah, Talal Finlayson, Jill North, Emma Ghassemifar, Reza Producer: 20160106 In: Hemoglobin vol. 39 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3006.	Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II. [electronic resource] by Soya, Keisuke Takezawa, Yuka Okumura, Nobuo Terasawa, Fumiko Producer: 20140703 In: Thrombosis research vol. 132 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3007.	Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia. [electronic resource] by Ben Brick, Ahlem Sabrine Laroussi, Nadia Mesrati, Hela Kefi, Rym Bchetnia, Mbarka Lasram, Khaled Ben Halim, Nizar Romdhane, Lilia Ouragini, Houyem Marrakchi, Salaheddine Boubaker, Mohamed Samir Meddeb Cherif, Mounira Castiglia, Daniele Hovnanian, Alain Abdelhak, Sonia Turki, Hamida Producer: 20150110 In: Archives of dermatological research vol. 306 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3008.	Suppression of stop codon UGA in acrB can contribute to antibiotic resistance in Klebsiella pneumoniae ATCC10031. [electronic resource] by Onishi, Motoyasu Mizusawa, Minako Tsuchiya, Tomofusa Kuroda, Teruo Ogawa, Wakano Producer: 20140417 In: Gene vol. 534 Availability: No items available. Save to lists Add to cart (remove)
	3009.	A novel large deletion combined with a nonsense mutation in a Chinese child with Papillon-Lefèvre syndrome. [electronic resource] by Wu, W Chen, B Chen, X Chen, L Yi, L Wang, Y Yan, F Sun, W Producer: 20171211 In: Journal of periodontal research vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3010.	Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy. [electronic resource] by Rudolf, Gabrielle Lesca, Gaetan Mehrjouy, Mana M Labalme, Audrey Salmi, Manal Bache, Iben Bruneau, Nadine Pendziwiat, Manuela Fluss, Joel de Bellescize, Julitta Scholly, Julia Møller, Rikke S Craiu, Dana Tommerup, Niels Valenti-Hirsch, Maria Paola Schluth-Bolard, Caroline Sloan-Béna, Frédérique Helbig, Katherine L Weckhuysen, Sarah Edery, Patrick Coulbaut, Safia Abbas, Mohamed Scheffer, Ingrid E Tang, Sha Myers, Candace T Stamberger, Hannah Carvill, Gemma L Shinde, Deepali N Mefford, Heather C Neagu, Elena Huether, Robert Lu, Hsiao-Mei Dica, Alice Cohen, Julie S Iliescu, Catrinel Pomeran, Cristina Rubenstein, James Helbig, Ingo Sanlaville, Damien Hirsch, Edouard Szepetowski, Pierre Producer: 20170711 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3011.	De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy. [electronic resource] by Sakai, Yasunari Fukai, Ryoko Matsushita, Yuki Miyake, Noriko Saitsu, Hirotomo Akamine, Satoshi Torio, Michiko Sasazuki, Momoko Ishizaki, Yoshito Sanefuji, Masafumi Torisu, Hiroyuki Shaw, Chad A Matsumoto, Naomichi Hara, Toshiro Producer: 20170526 In: Annals of human genetics vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3012.	A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency. [electronic resource] by Fauchereau, F Shalev, S Chervinsky, E Beck-Fruchter, R Legois, B Fellous, M Caburet, S Veitia, R A Producer: 20170503 In: Clinical genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3013.	A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism. [electronic resource] by Liu, Yanxia Yuan, Jinlei Zhang, Huijuan Jiang, Yanyan Qin, Guijun Producer: 20170822 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3014.	Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature. [electronic resource] by Huenerberg, Katherine Hudspeth, Michelle Bergmann, Shayla Pai, Shashidhar Singh, Balvir Duong, Angie Producer: 20170104 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3015.	Congenital diaphragmatic hernia as a part of Nance-Horan syndrome? [electronic resource] by Kammoun, Molka Brady, Paul De Catte, Luc Deprest, Jan Devriendt, Koenraad Vermeesch, Joris Robert Producer: 20181221 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3016.	A new novel nonsense mutation in [electronic resource] by Wan, Ling Xiang, Li Wang, Haixin Shi, Yi Jiang, Dan Hao, Fang Huang, Lulin Producer: 20200511 In: Ophthalmic genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3017.	A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype. [electronic resource] by Andoni, Tala Ellard, Sian Kapadia, Jogesh Wakeling, Emma Producer: 20200928 In: Clinical dysmorphology vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3018.	COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. [electronic resource] by Wenstrup, R J Florer, J B Willing, M C Giunta, C Steinmann, B Young, F Susic, M Cole, W G Producer: 20010607 In: American journal of human genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3019.	Identification of new mutations in Israeli patients with X-linked adrenoleukodystrophy. [electronic resource] by Neumann, S Topper, A Mandel, H Shapira, I Golan, O Gazit, E Loewenthal, R Producer: 20011101 In: Genetic testing vol. 5 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3020.	X-linked hyper IgM syndrome: a report of the first case in Thailand with a confirmed mutation of CD40 ligand gene. [electronic resource] by Santadusit, S Visitsunthon, N Ochs, H D Vichyanond, P Producer: 20010614 In: Asian Pacific journal of allergy and immunology vol. 18 Availability: No items available. Save to lists Add to cart (remove)

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