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	3221.	A spontaneous point mutation produces monoamine oxidase A/B knock-out mice with greatly elevated monoamines and anxiety-like behavior. [electronic resource] by Chen, Kevin Holschneider, Daniel P Wu, Weihua Rebrin, Igor Shih, Jean C Producer: 20041025 In: The Journal of biological chemistry vol. 279 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3222.	A premature termination codon mutation at the C terminus of foamy virus Gag downregulates the levels of spliced pol mRNA. [electronic resource] by Lee, Eun-Gyung Kuppers, Daniel Horn, Megan Roy, Jacqueline May, Cynthia Linial, Maxine L Producer: 20080305 In: Journal of virology vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3223.	Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria. [electronic resource] by Zhang, Furen Liu, Hong Jiang, Deke Tian, Hongqing Wang, Changyuan Yu, Long Producer: 20080619 In: Journal of dermatological science vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3224.	The deleterious effect of an insertion sequence removing the last twenty percent of the essential Escherichia coli rpsA gene is due to mRNA destabilization, not protein truncation. [electronic resource] by Skorski, Patricia Proux, Florence Cheraiti, Chainez Dreyfus, Marc Hermann-Le Denmat, Sylvie Producer: 20071009 In: Journal of bacteriology vol. 189 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3225.	Association of caspase-8 mutation with chemoresistance to cisplatin in HOC313 head and neck squamous cell carcinoma cells. [electronic resource] by Liu, Juan Uematsu, Hiroshi Tsuchida, Nobuo Ikeda, Masa-Aki Producer: 20091229 In: Biochemical and biophysical research communications vol. 390 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3226.	Dent's disease manifesting as focal glomerulosclerosis: Is it the tip of the iceberg? [electronic resource] by Frishberg, Yaacov Dinour, Dganit Belostotsky, Ruth Becker-Cohen, Rachel Rinat, Choni Feinstein, Sofia Navon-Elkan, Paulina Ben-Shalom, Efrat Producer: 20100105 In: Pediatric nephrology (Berlin, Germany) vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3227.	A novel mutation in RASA1 causes capillary malformation and limb enlargement. [electronic resource] by Hershkovitz, Dov Bergman, Reuven Sprecher, Eli Producer: 20081203 In: Archives of dermatological research vol. 300 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3228.	Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations. [electronic resource] by Spinazzola, Antonella Santer, René Akman, Orhan H Tsiakas, Kostas Schaefer, Hansjoerg Ding, Xiaoqi Karadimas, Charalampos L Shanske, Sara Ganesh, Jaya Di Mauro, Salvatore Zeviani, Massimo Producer: 20080916 In: Archives of neurology vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3229.	Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS. [electronic resource] by Tümer, Zeynep Bertelsen, Birgitte Gredal, Ole Magyari, Melinda Nielsen, Karen Cecilie Grønskov, Karen Brøndum-Nielsen, Karen Producer: 20120313 In: Neurobiology of aging vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3230.	Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. [electronic resource] by Chen, Mingfei Liu, Hong Fu, Xi'an Yu, Yongxiang Yu, Gongqi Liu, Huaxu Tian, Hongqing Zhou, Guizhi Zhang, Dizhan Wang, Guangjin Zhang, Furen Producer: 20110927 In: The Australasian journal of dermatology vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3231.	Is PATCHED an important candidate gene for neural tube defects? Cranial and thoracic neural tube defects in a family with Gorlin syndrome: a case report. [electronic resource] by Roudgari, H Farndon, P A Murray, A D Hardy, C Miedzybrodzka, Z Producer: 20130308 In: Clinical genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3232.	Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder. [electronic resource] by Churpek, Jane E Garcia, Jacqueline S Madzo, Jozef Jackson, Sarah A Onel, Kenan Godley, Lucy A Producer: 20110203 In: Leukemia & lymphoma vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3233.	Listeria monocytogenes isolated from food samples from a Romanian black market show distinct virulence profiles. [electronic resource] by Ciolacu, Luminita Nicolau, Anca Ioana Wagner, Martin Rychli, Kathrin Producer: 20151209 In: International journal of food microbiology vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3234.	SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth. [electronic resource] by Corradi, Anna Fadda, Manuela Piton, Amélie Patry, Lysanne Marte, Antonella Rossi, Pia Cadieux-Dion, Maxime Gauthier, Julie Lapointe, Line Mottron, Laurent Valtorta, Flavia Rouleau, Guy A Fassio, Anna Benfenati, Fabio Cossette, Patrick Producer: 20140804 In: Human molecular genetics vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3235.	Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency. [electronic resource] by Puisac, Beatriz Teresa-Rodrigo, María Esperanza Arnedo, María Gil-Rodríguez, María Concepción Pérez-Cerdá, Celia Ribes, Antonia Pié, Angeles Bueno, Gloria Gómez-Puertas, Paulino Pié, Juan Producer: 20130827 In: Molecular genetics and metabolism vol. 108 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3236.	A diagnostic dilemma in AL(L)PS. [electronic resource] by Lee-Brennan, Cariosa O'Reilly, Maeve Smith, Owen Quinn, John Murphy, Philip Keogan, Mary Producer: 20140408 In: Annals of hematology vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3237.	Mutational analysis of BCORL1 in the leukemic transformation of chronic myeloproliferative neoplasms. [electronic resource] by Rotunno, Giada Guglielmelli, Paola Biamonte, Flavia Rumi, Elisa Cazzola, Mario Vannucchi, Alessandro M Producer: 20140408 In: Annals of hematology vol. 93 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3238.	Multiple origins of the phenol reaction negative phenotype in foxtail millet, Setaria italica (L.) P. Beauv., were caused by independent loss-of-function mutations of the polyphenol oxidase (Si7PPO) gene during domestication. [electronic resource] by Inoue, Takahiko Yuo, Takahisa Ohta, Takeshi Hitomi, Eriko Ichitani, Katsuyuki Kawase, Makoto Taketa, Shin Fukunaga, Kenji Producer: 20151026 In: Molecular genetics and genomics : MGG vol. 290 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3239.	Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome. [electronic resource] by Han, Ji Yoon Lee, In Goo Jang, Woori Shin, Soyoung Park, Joonhong Kim, Myungshin Producer: 20180108 In: Clinica chimica acta; international journal of clinical chemistry vol. 470 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3240.	Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant. [electronic resource] by Gu, Yajuan Chang, Xiaodan Dai, Shan Song, Qinghua Zhao, Hongshan Lei, Pengcheng Producer: 20171009 In: Gene vol. 628 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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