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	1901.	A TP53-truncating germline mutation (E287X) in a family with characteristics of both hereditary diffuse gastric cancer and Li-Fraumeni syndrome. [electronic resource] by Kim, Il-Jin Kang, Hio Chung Shin, Yong Park, Hye-Won Jang, Sang-Geun Han, Song-Yee Lim, Sun-Kyung Lee, Min Ro Chang, Hee Jin Ku, Ja-Lok Yang, Han-Kwang Park, Jae-Gahb Producer: 20050404 In: Journal of human genetics vol. 49 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1902.	Systemic analysis and zygosity determination of the RHD gene in a D-negative Chinese Han population reveals a novel D-negative RHD gene. [electronic resource] by Xu, Q Qun, X Grootkerk-Tax, M G H M Maaskant-van Wijk, P A van der Schoot, C E Producer: 20050630 In: Vox sanguinis vol. 88 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1903.	Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome. [electronic resource] by MacLean, Helen E Ball, Emma M A Rekaris, Georgia Warne, Garry L Zajac, Jeffrey D Producer: 20040325 In: Human mutation vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1904.	Nonsense-mediated mRNA decay in mammalian cells involves decapping, deadenylating, and exonucleolytic activities. [electronic resource] by Lejeune, Fabrice Li, Xiaojie Maquat, Lynne E Producer: 20031106 In: Molecular cell vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1905.	Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes. [electronic resource] by Fahmi, Saleemah Yang, Chendong Esmail, Sophie Hobbs, Helen H Cohen, Jonathan C Producer: 20080807 In: Human molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1906.	Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe. [electronic resource] by Verschuuren-Bemelmans, Corien C Winter, Pia Sival, Deborah A Elting, Jan-Willem Brouwer, Oebele F Müller, Ulrich Producer: 20090723 In: European journal of human genetics : EJHG vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1907.	Enhanced colitis-associated colon carcinogenesis in a novel Apc mutant rat. [electronic resource] by Yoshimi, Kazuto Tanaka, Takuji Takizawa, Akiko Kato, Megumi Hirabayashi, Masumi Mashimo, Tomoji Serikawa, Tadao Kuramoto, Takashi Producer: 20091103 In: Cancer science vol. 100 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1908.	Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3. [electronic resource] by Yuste-Chaves, Manuela Cañueto, Javier Santos-Briz, Ángel Ciria, Sara González-Sarmiento, Rogelio Unamuno, Pablo Producer: 20111219 In: Pediatric dermatology vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1909.	Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation. [electronic resource] by Hosokawa, Shinichi Takahashi, Nobumasa Kitajima, Hiroyuki Nakayama, Masahiro Kosaki, Kenjirou Okamoto, Nobuhiko Producer: 20100927 In: Congenital anomalies vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1910.	Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene. [electronic resource] by Takahashi, Ikuko Yamada, Yuichiro Kadowaki, Hiroko Horikoshi, Momoko Kadowaki, Takashi Narita, Takuma Tsuchida, Satoko Noguchi, Atsuko Koizumi, Akio Takahashi, Tsutomu Producer: 20100920 In: Endocrine journal vol. 57 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1911.	Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemia. [electronic resource] by Ding, Qiulan Ouyang, Qi Xi, Xiaodong Wang, Xuefeng Shen, Yiping Wang, Hongli Producer: 20130225 In: Thrombosis and haemostasis vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1912.	Identification of two novel mutations in TRPS1 gene in families with tricho-rhino-phalangeal type I syndrome. [electronic resource] by Flores-Cuevas, Arturo Mutchinick, Oswaldo Morales-Suárez, Jose J González-Huerta, Luz Maria Cuevas-Covarrubias, Sergio A Producer: 20131025 In: Journal of investigative medicine : the official publication of the American Federation for Clinical Research vol. 60 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1913.	Single nucleotide polymorphisms of Helicobacter pylori dupA that lead to premature stop codons. [electronic resource] by Moura, Sílvia B Costa, Rafaella F A Anacleto, Charles Rocha, Gifone A Rocha, Andreia M C Queiroz, Dulciene M M Producer: 20120813 In: Helicobacter vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1914.	Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum. [electronic resource] by Hong, Daojun Shi, Zhihong Wang, Zhaoxia Yuan, Yun Producer: 20120914 In: Clinical neuropathology vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1915.	A novel nonsense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome. [electronic resource] by Liu, Xiaoyi Fu, Jiao Cai, Zhen Sun, Liang Zhang, Xiaoyan Li, Zesong Diao, Ruiying Wang, Zihui Yu, Guangyin Cai, Zhiming Gui, Yaoting Producer: 20121004 In: Journal of andrology vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1916.	A recurrent nonsense mutation occurring as a de novo event in a patient with recessive dystrophic epidermolysis bullosa. [electronic resource] by Cuadrado-Corrales, N Sánchez-Jimeno, C García, M Ayuso, C De Lucas, R Vicario, J L Conti, C J Zambruno, G Escamez, M J Del Rio, M Producer: 20120425 In: Dermatology (Basel, Switzerland) vol. 223 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1917.	[Molecular mechanisms of Arg77Cys missense mutation and Arg174stop nonsense mutation of factor XIII A gene causing severe factor XIII deficiency]. [electronic resource] by Zheng, Wei-Dong Liu, Yan-Hui Luo, Ying Yao, Zhi-Bin Producer: 20121129 In: Zhongguo shi yan xue ye xue za zhi vol. 19 Availability: No items available. Save to lists Add to cart (remove)
	1918.	Gene categories differentially expressed in C. elegans age-1 mutants of extraordinary longevity: new insights from novel data-mining procedures. [electronic resource] by Shmookler Reis, Robert J Ayyadevara, Srinivas Crow, W Alex Lee, Taewon Delongchamp, Robert R Producer: 20120515 In: The journals of gerontology. Series A, Biological sciences and medical sciences vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1919.	Human cytomegalovirus early protein pUL21a promotes efficient viral DNA synthesis and the late accumulation of immediate-early transcripts. [electronic resource] by Fehr, Anthony R Yu, Dong Producer: 20110118 In: Journal of virology vol. 85 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1920.	Mutation breeding of acetoin high producing Bacillus subtilis blocked in 2,3-butanediol dehydrogenase. [electronic resource] by Zhang, Xian Zhang, Rongzhen Yang, Taowei Zhang, Jing Xu, Meijuan Li, Huazhong Xu, Zhenghong Rao, Zhiming Producer: 20140418 In: World journal of microbiology & biotechnology vol. 29 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.