Resultados da pesquisa - Lee, Paul R.
- A mostrar 1 - 9 resultados de 9
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Child Neurology: Zellweger syndrome Por Lee, Paul R., Raymond, Gerald V.
Publicado em 2013Text -
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Protease-activated receptor-1 activation by granzyme B causes neurotoxicity that is augmented by interleukin-1β Por Lee, Paul R., Johnson, Tory P., Gnanapavan, Sharmilee, Giovannoni, Gavin, Wang, Tongguang, Steiner, Joseph P., Medynets, Marie, Vaal, Mark J., Gartner, Valerie, Nath, Avindra
Publicado em 2017Text -
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Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome Por Kane, Megan S., Vilboux, Thierry, Wolfe, Lynne A., Lee, Paul R., Wang, Yupeng, Huddleston, Kathi C., Vockley, Joseph G., Niederhuber, John E., Solomon, Benjamin D.
Publicado em 2016Text -
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MED23-associated Intellectual Disability in a Non-consanguineous Family Por Trehan, Aditi, Brady, Jacqueline M., Maduro, Valerie, Bone, William, Huang, Yan, Golas, Gretchen A., Kane, Megan, Lee, Paul R., Thurm, Audrey, Gropman, Andrea L., Paul, Scott M., Vezina, Gilbert, Markello, Thomas C., Gahl, William A., Boerkoel, Cornelius F., Tifft, Cynthia J.
Publicado em 2015Text -
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Nodding syndrome may be an autoimmune reaction to the parasitic worm Onchocerca volvulus Por Johnson, Tory P., Tyagi, Richa, Lee, Paul R., Lee, Myoung-Hwa, Johnson, Kory R., Kowalak, Jeffrey, Elkahloun, Abdel, Medynets, Marie, Hategan, Alina, Kubofcik, Joseph, Sejvar, James, Ratto, Jeffrey, Bunga, Sudhir, Makumbi, Issa, Aceng, Jane R., Nutman, Thomas B., Dowell, Scott F., Nath, Avindra
Publicado em 2017Text -
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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy Por Whitman, Mary C., Barry, Brenda J., Robson, Caroline D., Facio, Flavia M., Van Ryzin, Carol, Chan, Wai-Man, Lehky, Tanya J., Thurm, Audrey, Zalewski, Christopher, King, Kelly A., Brewer, Carmen, Almpani, Konstantinia, Lee, Janice S., Delaney, Angela, FitzGibbon, Edmond J., Lee, Paul R., Toro, Camilo, Paul, Scott M., Abdul-Rahman, Omar A., Webb, Bryn D., Jabs, Ethylin Wang, Moller, Hans Ulrik, Larsen, Dorte Ancher, Antony, Jayne H., Troedson, Christopher, Ma, Alan, Ragnhild, Glad, Wirgenes, Katrine V., Tham, Emma, Kvarnung, Malin, Maarup, Timothy James, MacKinnon, Sarah, Hunter, David G., Collins, Francis S., Manoli, Irini, Engle, Elizabeth C.
Publicado em 2021Text