Results 31 to 40 of about 6,238,924 (364)
An Atlas of Genetic Correlations across Human Diseases and Traits
Nature Genetics, 2015 Identifying genetic correlations between complex traits and diseases can provide useful etiological insights and help prioritize likely causal relationships.B. Bulik-Sullivan, H. Finucane, V. Anttila, A. Gusev, F. Day, Po-Ru Loh, L. Duncan, J. Perry, N. Patterson, E. Robinson, M. Daly, A. Price, B. Neale +12 moresemanticscholar +1 more sourceSitosterolemia With Atherosclerosis in a Child: A Case Report
Frontiers in Pediatrics, 2021 Introduction: Sitosterolemia is a rare condition in children and is often misdiagnosed as familial hypercholesterolemia. Serious complications can result if not treated promptly and effectively.Hongjun Ba, Hongjun Ba, Huimin Peng, Xiufang He, Liangping Cheng, Yuese Lin, Xuandi Li, Huishen Wang, Youzhen Qin, Youzhen Qin +9 moredoaj +1 more sourceGenetic effects on gene expression across human tissues
Nature, 2017 Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases.François Andrew A. Stephane E. Joe R. Yuan Brian Pejman YoS Aguet Brown Castel Davis He Jo Mohammadi Park Pars, François Andrew A. Stephane E. Joe R. Yuan Brian Pejman YoS Aguet Brown Castel Davis He Jo Mohammadi Park Pars, F. Aguet, Andrew A. Brown, Stephane E. Castel, Joe R. Davis, Yuan He, Brian Jo, P. Mohammadi, YoSon Park, P. Parsana, A. Segrè, B. Strober, Zachary Zappala, Beryl B. Ellen T. Kane Katherine H. Monkol Xiao Jared L. Cummings Gelfand Hadley Huang Lek Li Nedzel Nguyen, Beryl B. Cummings, Ellen T. Gelfand, Kane Hadley, Katherine H. Huang, M. Lek, Xiao Li, Jared L. Nedzel, Duyen Y. Nguyen, M. Noble, Timothy J. Sullivan, T. Tukiainen, D. MacArthur, Gaddy Getz, Anjene Ping Susan A. Roger Nicole C. Helen M. Abhi Jeffer Addington Guan Koester Little Lockhart Moore Rao S, A. Addington, P. Guan, S. Koester, A. Little, N. Lockhart, Helen M. Moore, Abhi Rao, Jeffery P. Struewing, Simona Volpi, Lori E. Richard Marcus Christopher Mark Gene William F. Brigham Hasz Hunter Johns Johnson Kopen Leinweber , L. Brigham, Richard Hasz, Marcus Hunter, Christopher Johns, Mark Johnson, G. Kopen, W. F. Leinweber, J. Lonsdale, Alisa McDonald, Bernadette Mestichelli, K. Myer, Brian Roe, Mike Salvatore, Saboor Shad, Jeffrey A. Thomas, Gary Walters, Michael Washington, Joseph Wheeler, J. Bridge, B. Foster, Bryan M. Gillard, E. Karasik, Rachna Kumar, Mark Miklos, M. T. Moser, Scott D. Jewell, Robert G. Montroy, D. Rohrer, Dana R. Valley, Deborah C. Mash, David A. Davis, Leslie Mary E. Philip A. Sobin Barcus Branton, L. Sobin, M. Barcus, P. Branton, Nathan S. Brunilda Olivier Laure Eric R. Diego Ariel D. H Abell Balliu Delaneau Frésard Gamazon Garrido-Mart, Nathan S. Abell, Brunilda Balliu, O. Delaneau, Laure Frésard, E. Gamazon, D. Garrido-Martín, Ariel D. H. Gewirtz, Genna Gliner, Michael J. Gloudemans, Buhm Han, Amy Z. He, F. Hormozdiari, Xin Li, Boxiang Liu, Eun Yong Kang, Ian C. McDowell, H. Ongen, John Palowitch, Christine B. Peterson, G. Quon, S. Ripke, A. Saha, A. A. Shabalin, Tyler C. Shimko, J. Sul, Nicole A. Teran, Emily K. Tsang, Hailei Zhang, Yi-Hui Zhou, C. Bustamante, Nancy J. Cox, R. Guigó, M. Kellis, M. McCarthy, Don Conrad, E. Eskin, Gen Li, A. Nobel, C. Sabatti, Barbara E. Stranger, Xiaoquan Wen, Fred A. Wright, K. Ardlie, E. Dermitzakis, T. Lappalainen, François Kristin G. Beryl B. Ellen T. Gad Kane Robert E. Ka Aguet Ardlie Cummings Gelfand Getz Hadley Handsake, F. Aguet, K. Ardlie, Beryl B. Cummings, Ellen T. Gelfand, Gaddy Getz, Kane Hadley, R. Handsaker, Katherine H. Huang, Seva Kashin, K. Karczewski, M. Lek, Xiao Li, D. MacArthur, Jared L. Nedzel, D. T. Nguyen, M. Noble, A. Segrè, Casandra A. Trowbridge, T. Tukiainen, Nathan S. Brunilda Ruth Omer Alexis Gireesh K. Andrew Chr Abell Balliu Barshir Basha Battle Bogu Brown Brown, Ruth Barshir, Omer Basha, A. Battle, G. Bogu, Andrew A. Brown, Christopher D. Brown, Lin S. Chen, Colby Chiang, Don Conrad, Nancy J. Cox, Farhan N. Damani, B. Engelhardt, E. Eskin, Pedro G. Ferreira, Laure Frésard, E. Gamazon, D. Garrido-Martín, Ariel D. H. Gewirtz, Genna Gliner, Michael J. Gloudemans, R. Guigó, I. Hall, Buhm Han, F. Hormozdiari, C. Howald, Hae Kyung Im, Brian Jo, Eun Yong Kang, Yungil Kim, Sarah Kim-Hellmuth, Boxiang Liu, S. Mangul, Ian C. McDowell, Jean Monlong, Stephen B Montgomery, Manuel Muñoz-Aguirre, Anne W. Ndungu, Dan L. Nicolae, Meritxell Oliva, N. Panousis, Panagiotis K. Papasaikas, YoSon Park, Anthony J. Payne, J. Quan, F. Reverter, M. Sammeth, Alexandra J. Scott, A. A. Shabalin, Reza Sodaei, M. Stephens, Barbara E. Stranger, Sarah Urbut, M. van de Bunt, Gao Wang, Fred A. Wright, H. Xi, Esti Yeger-Lotem, Judith B. Zaugg, Yi-Hui Zhou, Joshua M. Daniel Joanne Lin S. Melina Kathryn Morgan Jenn Akey Bates Chan Chen Claussnitzer Demanelis Diegel, J. Akey, Daniel Bates, Joanne Chan, M. Claussnitzer, Kathryn Demanelis, Morgan Diegel, J. Doherty, A. Feinberg, Maria S. Fernando, J. Halow, Kasper D. Hansen, E. Haugen, P. Hickey, Lei Hou, F. Jasmine, Ruiqi Jian, Lihua Jiang, Audra K. Johnson, R. Kaul, M. Kellis, M. Kibriya, Kristen Lee, Jin Billy Li, Qin Li, Xiao Li, Jessica Lin, Shin Lin, Sandra Linder, C. Linke, Yaping Liu, M. Maurano, B. Molinie, Stephen B Montgomery, Jemma Nelson, Fidencio J. Neri, Yongjin P. Park, B. Pierce, Nicola J. Rinaldi, L. Rizzardi, R. Sandstrom, Andrew Skol, Kevin S. Smith, Michael P. Snyder, J. Stamatoyannopoulos, Hua Tang, L. Wang, M. Wang, Nicholas Van Wittenberghe, Fan Wu, Rui Zhang, C. Nierras, Philip A. Latarsha J. Ping Helen M. Abhi Jimmie B. Branton Carithers Guan Moore Rao Vaught, P. Branton, Latarsha J. Carithers, P. Guan, Helen M. Moore, Abhi Rao, J. Vaught, Sarah E. Nicole C. Casey Jeffery P. Simona Gould Lockart Martin Struewing Volpi, Sarah E. Gould, Nicole C. Lockart, Casey Martin, Jeffery P. Struewing, Simona Volpi, Anjene M. Susan E. Addington Koester, A. Addington, S. Koester, A. Little, Lori E. Richard Marcus Christopher Mark Gene William F. Brigham Hasz Hunter Johns Johnson Kopen Leinweber , L. Brigham, Mark Johnson, Brian Roe, Gary Walters, Michael Washington, Jason Barbara A. Bryan M. Ellen Rachna Mark Michael T. Bridge Foster Gillard Karasik Kumar Miklos Moser, Scott D. Robert G. Daniel C. Dana R. Jewell Montroy Rohrer Valley, Scott D. Jewell, Robert G. Montroy, D. Rohrer, Dana R. Valley, David A. Deborah C. Davis Mash, David A. Davis, Deborah C. Mash, Anita H. Anna M. David E. Nancy V. Jeffrey A. Negin Karn Undale Smith Tabor Roche McLean Vatanian Robinson , Anita H. Undale, Anna M. Smith, D. Tabor, Nancy V. Roche, J. McLean, Negin Vatanian, Karna L. Robinson, L. Sobin, M. Barcus, Kimberly M. Valentino, L. Qi, Steven Hunter, P. Hariharan, Shilpi Singh, K. S. Um, Takunda Matose, M. Tomaszewski, Laura K. Maghboeba Laura A. Heather M. Barker Mosavel Siminoff Traino, Laura K. Barker, M. Mosavel, L. Siminoff, H. Traino, Paul Thomas Magali Dan Kieron Stephen J. Daniel R. Flicek Juettemann Ruffier Sheppard Taylor Trevanio, Paul Flicek, Thomas Juettemann, Magali Ruffier, Daniel Sheppard, K. Taylor, S. Trevanion, D. Zerbino, Brian Mary Maximilian W. James Christopher M. Benedict K Craft Goldman Haeussler Kent Lee Paten Rosenbloom , Brian Craft, M. Goldman, M. Haeussler, W. Kent, Christopher M. Lee, B. Paten, K. Rosenbloom, John Vivian, Jingchun Zhu +324 moresemanticscholar +1 more sourceGenetic ties and genetic mixups [PDF]
Journal of Medical Ethics, 2003 In a recent case in Great Britain, a couple described as “white” underwent in vitro fertilisation and gave birth to twins described as “black”. In the sense of a fair adjudication of this particular case, serving justice requires a thick description and a sensitive understanding of the relevant facts.T H Murray, G E Kaebnickopenaire +2 more sourcesA huge absence of skin on the trunk: aplasia cutis congenita
The Pan African Medical Journal, 2018 A 2590 g female infant was born at 39 weeks' gestation to a 34-year-old gravida 4 para 4 mother via cesarean section. Upon delivery she was noted to have an absence of skin on the huge part of the trunk. Lesion was unilateral, gelatinous and covered by a Pelin Dogan, Ipek Güney Varaldoaj +1 more sourceCharcot-Marie-Tooth 2B mutations in rab7 cause dosage-dependent neurodegeneration due to partial loss of function
eLife, 2013 The small GTPase Rab7 is a key regulator of endosomal maturation in eukaryotic cells. Mutations in rab7 are thought to cause the dominant neuropathy Charcot-Marie-Tooth 2B (CMT2B) by a gain-of-function mechanism.Smita Cherry, Eugene Jennifer Jin, Mehmet Neset Özel, Zhiyuan Lu, Egemen Agi, Dong Wang, Wei-Hung Jung, Daniel Epstein, Ian A Meinertzhagen, Chih-Chiang Chan, P Robin Hiesinger +10 moredoaj +1 more source
