A Case of DNAJC12-Deficient Hyperphenylalaninemia Detected on Newborn Screening: Clinical Outcomes from Early Detection

Autor: Colleen Donnelly, Lissette Estrella, Ilona Ginevic, Jaya Ganesh

Publikováno v: International Journal of Neonatal Screening, Vol 10, Iss 1, p 7 (2024)

DNAJC12-deficient hyperphenylalaninemia is a recently described inborn error of metabolism associated with hyperphenylalaninemia, neurotransmitter deficiency, and developmental delay caused by biallelic pathogenic variants of the DNAJC12 gene. The lo

Externí odkaz: https://doaj.org/article/27d51565650d4b5db67a4c11c1539358

Refusing to be silenced: Claiming chaos narrative

Autor: Colleen Donnelly

Publikováno v: Frontiers of Narrative Studies. 7:110-123

In the Wounded Storyteller, Arthur Frank proposed three types of narrative told by people attempting to reclaim their voice and the body made alien by illness – restitution, quest, and chaos. Restitution narrative has dominated media; in it, the pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8b26dbdbf0ac3cf72b8408d6aafde509
https://doi.org/10.1515/fns-2021-0006

The Daniel K. Inouye Solar Telescope – Observatory Overview

Autor: Robert P. Hubbard, Aimee Szabo, Christopher Richards, Le Ellen Phelps, Heather K. Marshall, Kerry Gonzales, John R. Hubbard, Michael Knölker, Karl Newman, Mark Rast, Predrag Sekulic, Mary Liang, Colleen Donnelly, Christopher Gedrites, Brett Smith, Richard T. Summers, Christopher Foster, David Elmore, Sarah A. Jaeggli, Luke C. Johnson, Stephen B. Wampler, Brialyn Onodera, Thomas R. Rimmele, Isaac McQuillen, Joseph P. McMullin, Jeff Kuhn, Robert Rosner, David M. Harrington, Jean Benoit de Vanssay, Alisdair Davey, Stephen Guzzo, Bruce A. Cowan, Andrew Ferayorni, Stephanie S. Guzman, Steve Hegwer, Stacey R. Sueoka, Lukas M. Rimmele, Wolfgang Schmidt, Alfred G. de Wijn, Charles White, Friedrich Wöger, Erik M. Johansson, Jacobus M. Oschmann, Stephan R. Shimko, Tetsu Anan, Bryan K. Cummings, Oskar von der Lühe, Chriselle Ann Galapon, David C. Berst, Chen Liang, Mihalis Mathioudakis, Andrew Beard, Timothy R. Williams, Bret D. Goodrich, Simon C. Craig, Brett E. Simison, Myles M. Puentes, Stephen L. Keil, Haosheng Lin, Eric Cross, Thomas A. Schad, Erik Starman, Brian S. Gregory, Philip R. Goode, Christopher Mayer, Christian Beck, Donald L. Mickey, Roberto Casini, Arthur D. Eigenbrot, André Fehlmann, Louis Szabo, Alexandra Tritschler, Paul F. Jeffers, Mark Warner

Publikováno v: Rimmele, T R, Warner, M, Keil, S L, Goode, P R, Knölker, M, Kuhn, J R, Rosner, R R, McMullin, J P, Casini, R, Lin, H, Wöger, F, von der Lühe, O, Tritschler, A, Davey, A, de Wijn, A, Elmore, D F, Fehlmann, A, Harrington, D M, Jaeggli, S A, Rast, M P, Schad, T A, Schmidt, W, Mathioudakis, M, Mickey, D L, Anan, T, Beck, C, Marshall, H K, Jeffers, P F, Oschmann, J M, Beard, A, Berst, D C, Cowan, B A, Craig, S C, Cross, E, Cummings, B K, Donnelly, C, de Vanssay, J B, Eigenbrot, A D, Ferayorni, A, Foster, C, Galapon, C A, Gedrites, C, Gonzales, K, Goodrich, B D, Gregory, B S, Guzman, S S, Guzzo, S, Hegwer, S, Hubbard, R P, Hubbard, J R, Johansson, E M, Johnson, L C, Liang, C, Liang, M, McQuillen, I, Mayer, C, Newman, K, Onodera, B, Phelps, L E, Puentes, M M, Richards, C, Rimmele, L M, Sekulic, P, Shimko, S R, Simison, B E, Smith, B, Starman, E, Sueoka, S R, Summers, R T, Szabo, A, Szabo, L, Wampler, S B, Williams, T R & White, C 2020, ' The Daniel K. Inouye Solar Telescope – Observatory Overview ', Solar Physics, vol. 295, no. 12, 172 . https://doi.org/10.1007/s11207-020-01736-7

We present an overview of the National Science Foundation’sDaniel K. Inouye Solar Telescope(DKIST), its instruments, and support facilities. The 4 m aperture DKIST provides the highest-resolution observations of the Sun ever achieved. The large ape

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cae3d2aedb8dce89f37a06cde40c7715
https://pure.qub.ac.uk/en/publications/the-daniel-k-inouye-solar-telescope--observatory-overview(53af38b9-36ac-4c48-b702-0f5da5a26390).html

Apocryphal Literature, the Characterization of Satan, and the Descensus ad Inferos Tradition in England in the Middle Ages

Autor: Colleen Donnelly

Publikováno v: Religion & Theology. 24:321-349

This article discusses the role of apocrypha, specifically, the Gospel of Nicodemus in transmitting theological concepts that are not developed in Scripture and considers how such texts were transmitted across the centuries. In particular, this artic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cd983f49d4698197e24b89a4825cb3b9
https://doi.org/10.1163/15743012-02403004

Re-visioning Negative Archetypes of Disability and Deformity in Fantasy: Wicked, Maleficent, and Game of Thrones

Autor: Colleen Donnelly

Publikováno v: Disability Studies Quarterly, Vol 36, Iss 4 (2016)

Fantasy and horror often exploit disabled people, presenting them as embodiments of terror and evil. In contemporary fantasy, we sometimes see archetypically evil characters redefined primarily by the telling of their backstories to provide rationale

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a686223127f81d3a9628a14ce0ed6204
http://dsq-sds.org/article/view/5313