Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Erin Carmody"'
Autor:
Siddharth Srivastava, Emma Condy, Erin Carmody, Rajna Filip-Dhima, Kush Kapur, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, A lexander Kolevzon, on behalf of Developmental Synaptopathies Consortium
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-12 (2021)
Abstract Background Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of
Externí odkaz:
https://doaj.org/article/b343de3b427f461080af3528ec428f99
Autor:
Anna K. Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Rajna Filip-Dhima, Kush Kapur, Clemente Velasco-Annis, Sean Clancy, Erin Carmody, Meghan Dean, Molly Valle, Sanjay P. Prabhu, Jurriaan M. Peters, E. Martina Bebin, Darcy A. Krueger, Hope Northrup, Joyce Y. Wu, Mustafa Sahin, Simon K. Warfield
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 13 (2019)
BackgroundMulti-site MRI studies are often necessary for recruiting sufficiently sized samples when studying rare conditions. However, they require pooling data from multiple scanners into a single data set, and therefore it is critical to evaluate t
Externí odkaz:
https://doaj.org/article/40d579c4e7e44f8885c24b7540f6f0c2
Autor:
Eric Klann, Janani Priya Venkatasubramani, Elizabeth Berry-Kravis, Aditi Bhattacharya, Kevin Sharp, Amanda C. Kasper, Erin Carmody, Heather Bowling, Chhaya Patole, Sarah Parker Leventer, Kent Kirshenbaum
Publikováno v:
Journal of Proteome Research. 19:3856-3866
Aberrant protein synthesis and protein expression are a hallmark of many conditions ranging from cancer to Alzheimer's. Blood-based biomarkers indicative of changes in proteomes have long been held to be potentially useful with respect to disease pro
Publikováno v:
Fundamenta Mathematicae. 248:1-32
Smallish large cardinals $\kappa$ are often characterized by the existence of a collection of filters on $\kappa$, each of which is an ultrafilter on the subsets of $\kappa$ of some transitive $\mathrm{ZFC}^-$-model of size $ \kappa$. We introduce a
Autor:
Anthony R. Otley, Anil Dhawan, Susan Gilmour, David Nicholas, Richard A. Schreiber, Vicky L. Ng, Nada Yazigi, Michael Stormon, Looi C Ee, Erin Carmody, Amy Grant
Publikováno v:
Pediatric transplantationREFERENCES. 25(7)
BACKGROUND HRQOL is a key outcome following pediatric LT. Parent-proxy reports may substitute for patients unable to report their own HRQOL. This study compared parent-proxy and self-reported HRQOL in children who have undergone LT. METHODS Pediatric
Akademický článek
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Publikováno v:
Cognition. 213:104600
Exposure to high levels of early life stress have been associated with long-term difficulties in learning, behavior, and health, with particular impact evident in the language domain. While some have proposed that the increased stress of living in a
Autor:
Yoshihisa Takiyama, Stefanie Brock, Jennifer Hirst, Niklas Dahl, Radka Kremlikova Pourova, Andrea Martinuzzi, Seth Perlman, Helene Verhelst, Omnia Fathy El-Rashidy, Nour Elkhateeb, Sarah I. Sheikh, Jamal Ghoumid, Erin Carmody, Georgia Xiromerisiou, Diego Miguel, James T. Bennett, Barbara Brechmann, William O. Walker, David Dacruz-Álvarez, Mathieu Anheim, Dana M. Jensen, Stefan Kölker, Uzma Shamshad, Darius Ebrahimi-Fakhari, Grace Yoon, Katharina Vill, David Bearden, Adel A. Mahmoud, Sheela Nampoothiri, Devorah Segal, Antje Wiesener, Shenela Lakhani, Joseph G. Gleeson, Chirag Patel, Angelica D'Amore, Abdelrahim Abdrabou Sadek, Marvin Ziegler, Mustafa Sahin, Toni S. Pearson, Julian Teinert, Kira A. Dies, Christopher J. Yuskaitis, Catherine L. Salussolia, Lubov Blumkin, Jonathan Baets, Laura Robelin, Daniel Ebrahimi-Fakhari, Parham Habibzadeh, Anju Shukla, Peter O. Bauer, Saskia Bulk, Afshin Saffari, Elizabeth Lim-Melia, Michael C. Kruer, Christian Beetz, Andreas Ziegler, Pankaj B. Agrawal, Thomas Bourinaris, Filippo M. Santorelli, Mireille Guillot, Abdullah Alamri, Mohammad Ali Faghihi, Kathrin Eberhardt, Thomas Smol, Henry Houlden, Nur Aydinli, Constanze Heine, Soroor Inaloo, Anaita Udwadia-Hegde, Alejandro Brea-Fernández, Yasemin Alanay, Rachana Dubey Gupta, Ayse Aksoy, Agathe Roubertie, Jens Volkmann, Basil T. Darras, Hendrik Langen, Mauricio R. Delgado, Jan Ulrich Schlump, Gregory Geisel, Anna Jansen, Somayeh Bakhtiari, Steven P. Miller, Miriam Wimmer, Maha S. Zaki, Premsai Nagabhyrava, Robert Behne, Hossein Darvish
Publikováno v:
Brain
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SP
Akademický článek
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