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Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations by Kristina Xiao Liang, Cecilie Katrin Kristiansen, Sepideh Mostafavi, Guro Helén Vatne, Gina Alien Zantingh, Atefeh Kianian, Charalampos Tzoulis, Lena Elise Høyland, Mathias Ziegler, Roberto Megias Perez, Jessica Furriol, Zhuoyuan Zhang, Novin Balafkan, Yu Hong, Richard Siller, Gareth John Sullivan, Laurence A Bindoff
Published 2020-08-01Get full text
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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. by Bari J Ballew, Vijai Joseph, Saurav De, Grzegorz Sarek, Jean-Baptiste Vannier, Travis Stracker, Kasmintan A Schrader, Trudy N Small, Richard O'Reilly, Chris Manschreck, Megan M Harlan Fleischut, Liying Zhang, John Sullivan, Kelly Stratton, Meredith Yeager, Kevin Jacobs, Neelam Giri, Blanche P Alter, Joseph Boland, Laurie Burdett, Kenneth Offit, Simon J Boulton, Sharon A Savage, John H J Petrini
Published 2013-08-01Get full text
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