1
Por Kypridemos, Chris, Guzman-Castillo, Maria, Hyseni, Lirije, Hickey, Graeme L, Bandosz, Piotr, Buchan, Iain, Capewell, Simon, O'Flaherty, Martin
Publicado no BMJ Open (2017)
“... Deprivation. RESULTS: Since 2003, current salt policies have prevented or postponed ∼52 000 CVD cases (IQR: 34...”Publicado no BMJ Open (2017)
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2
Por Valli, M, Barnes, AM, Gallanti, A, Cabral, WA, Viglio, S, Weis, MA, Makareeva, E, Eyre, D, Leikin, S, Antoniazzi, F, Marini, JC, Mottes, M
Publicado em 2011
“...Deficiency of any component of the ER-resident collagen prolyl 3-hydroxylation complex causes...”Publicado em 2011
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3
Por Bonzo, Jessica A., Patterson, Andrew D., Krausz, Kristopher W., Gonzalez, Frank J.
Publicado em 2010
“...Mutations in the HNF1A gene cause maturity-onset diabetes of the young type 3, one of the most...”Publicado em 2010
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4
“... of the non-classical OI types have autosomal recessive inheritance and null mutations in their respective...”
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5
Por Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L, Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef
Publicado no Eur J Hum Genet (2016)
“... pathogenic DLG3 variants are predicted to be null, however the dupG variant likely leads to only a modest...”Publicado no Eur J Hum Genet (2016)
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6
Por Petazzi, Paolo, Sandoval, Juan, Szczesna, Karolina, Jorge, Olga C., Roa, Laura, Sayols, Sergi, Gomez, Antonio, Huertas, Dori, Esteller, Manel
Publicado em 2013
“... disorder that is the second most common cause of mental retardation in women. It has been shown...”Publicado em 2013
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7
Por Jung, Kwang-Mook, Sepers, Marja, Henstridge, Christopher M., Lassalle, Olivier, Neuhofer, Daniela, Martin, Henry, Ginger, Melanie, Frick, Andreas, DiPatrizio, Nicholas V., Mackie, Ken, Katona, Istvan, Piomelli, Daniele, Manzoni, Olivier J.
Publicado em 2012
“...Fragile X syndrome, the most commonly known genetic cause of autism, is due to loss of the fragile...”Publicado em 2012
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8
Por Lee, Seungjun, Kim, Eun Jin, Cho, Sung Im, Park, Hyunwoong, Seo, Soo Hyun, Seong, Moon-Woo, Park, Sung Sup, Jung, Sung-Eun, Lee, Seong-Cheol, Park, Kwi-Won, Kim, Hyun-Young
Publicado no Ann Lab Med (2018)
“... all familial cases and 30% of sporadic cases. Less commonly, a large deletion or a complex...”Publicado no Ann Lab Med (2018)
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9
“... uptake into PSMA-null PC3 cells. Cellular internalization of DAC was demonstrated by confocal microscopy...”
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10
Por Chatterjee, Rajshekhar, Ramos, Enrique, Hoffman, Mary, VanWinkle, Jessica, Martin, Daniel R, Davis, Thomas K, Hoshi, Masato, Hmiel, Stanley P, Beck, Anne, Hruska, Keith, Coplen, Doug, Liapis, Helen, Mitra, Robi, Druley, Todd, Austin, Paul, Jain, Sanjay
Publicado em 2012
“... of GDNF, RET and SPRY1 mutant alleles in mice cause renal malformations reminiscent of congenital...”Publicado em 2012
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11
Por Vazquez Fonseca, Luis, Doimo, Mara, Calderan, Cristina, Desbats, Maria Andrea, Acosta, Manuel J., Cerqua, Cristina, Cassina, Matteo, Ashraf, Shazia, Hildebrandt, Friedhelm, Sartori, Geppo, Navas, Placido, Trevisson, Eva, Salviati, Leonardo
Publicado no Hum Mutat (2017)
“...Mutations in COQ8B cause steroid‐resistant nephrotic syndrome with variable neurological...”Publicado no Hum Mutat (2017)
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12
Por Yao, Lei, Xie, Duanyang, Geng, Li, Shi, Dan, Huang, Jian, Wu, Yufei, Lv, Fei, Liang, Dandan, Li, Li, Liu, Yi, Li, Jun, Chen, Yi‐Han
Publicado no J Am Heart Assoc (2018)
“...BACKGROUND: Heart failure is a complex syndrome characterized by cardiac contractile impairment...”Publicado no J Am Heart Assoc (2018)
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13
Por Ulmer Carnes, Megan, Liu, Yangfan P., Allingham, R. Rand, Whigham, Benjamin T., Havens, Shane, Garrett, Melanie E., Qiao, Chunyan, Katsanis, Nicholas, Wiggs, Janey L., Pasquale, Louis R., Ashley-Koch, Allison, Oh, Edwin C., Hauser, Michael A.
Publicado em 2014
“... primarily in POAG cases, were hypomorphic or null, while the sixth variant, found only in controls...”Publicado em 2014
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Por Do, Ron, Stitziel, Nathan O., Won, Hong-Hee, Jørgensen, Anders Berg, Duga, Stefano, Merlini, Pier Angelica, Kiezun, Adam, Farrall, Martin, Goel, Anuj, Zuk, Or, Guella, Illaria, Asselta, Rosanna, Lange, Leslie A., Peloso, Gina M., Auer, Paul L., Girelli, Domenico, Martinelli, Nicola, Farlow, Deborah N., DePristo, Mark A., Roberts, Robert, Stewart, Alexander F.R., Saleheen, Danish, Danesh, John, Epstein, Stephen E., Sivapalaratnam, Suthesh, Hovingh, G. Kees, Kastelein, John J., Samani, Nilesh J., Schunkert, Heribert, Erdmann, Jeanette, Shah, Svati H., Kraus, William E., Davies, Robert, Nikpay, Majid, Johansen, Christopher T., Wang, Jian, Hegele, Robert A., Hechter, Eliana, Marz, Winfried, Kleber, Marcus E., Huang, Jie, Johnson, Andrew D., Li, Mingyao, Burke, Greg L., Gross, Myron, Liu, Yongmei, Assimes, Themistocles L., Heiss, Gerardo, Lange, Ethan M., Folsom, Aaron R., Taylor, Herman A., Olivieri, Oliviero, Hamsten, Anders, Clarke, Robert, Reilly, Dermot F., Yin, Wu, Rivas, Manuel A., Donnelly, Peter, Rossouw, Jacques E., Psaty, Bruce M., Herrington, David M., Wilson, James G., Rich, Stephen S., Bamshad, Michael J., Tracy, Russell P., Cupples, L. Adrienne, Rader, Daniel J., Reilly, Muredach P., Spertus, John A., Cresci, Sharon, Hartiala, Jaana, Tang, W.H. Wilson, Hazen, Stanley L., Allayee, Hooman, Reiner, Alex P., Carlson, Christopher S., Kooperberg, Charles, Jackson, Rebecca D., Boerwinkle, Eric, Lander, Eric S., Schwartz, Stephen M., Siscovick, David S., McPherson, Ruth, Tybjaerg-Hansen, Anne, Abecasis, Goncalo R., Watkins, Hugh, Nickerson, Deborah A., Ardissino, Diego, Sunyaev, Shamil R., O’Donnell, Christopher J., Altshuler, David, Gabriel, Stacey, Kathiresan, Sekar
Publicado no Nature (2014)
“...Myocardial infarction (MI), a leading cause of death around the world, displays a complex pattern...”Publicado no Nature (2014)
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16
“... conducted an extensive but non-systematic search for literature on the main theme “effects of herbivory...”
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17
“... reduced dendritic complexity and smaller somata in Mecp2-null mice, here we investigate whether Mecp2 loss...”
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18
Por Ninkina, Natalia, Peters, Owen M., Connor-Robson, Natalie, Lytkina, Olga, Sharfeddin, Essam, Buchman, Vladimir L.
Publicado em 2012
“..., also potentiates SNARE complex formation, and its overexpression rescues the phenotype of CSPα null...”Publicado em 2012
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19
Por Akhnokh, Maria K., Yang, Feng Hua, Samokhvalov, Victor, Jamieson, Kristi L., Cho, Woo Jung, Wagg, Cory, Takawale, Abhijit, Wang, Xiuhua, Lopaschuk, Gary D., Hammock, Bruce D., Kassiri, Zamaneh, Seubert, John M.
Publicado no Front Pharmacol (2016)
“..., trans-4-[4-(3-adamantan-1-y1-ureido)-cyclohexyloxy]-benzoic acid (tAUCB; 10 mg/L) or vehicle...”Publicado no Front Pharmacol (2016)
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20
“... null hypothesis for highly complex and organized systems such as those encountered in the environmental...”
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