Results 151 to 160 of about 2,600 (180)

The sport volunteering paradox: concerns from a legal and governance perspective, but the irony remains. [PDF]

Front Sports Act Living
Mountifield C, Sharpe S.
europepmc   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Cultural heritage of the Qin-Shu Ancient Road in Shaanxi: Spatial distribution characteristics and influencing factors. [PDF]

PLoS One
Li K, Huang Z, Pang Y, Chen S, Fan Y, Yin M, Shi C.   +6 more
europepmc   +1 more source

Sovereign AI supercomputers: a global landscape review of unprecedented biomedical research infrastructure. [PDF]

Front Artif Intell
Yang L, Bryan ME, Veiga E, Lowenhoff I, Wan A, Mina I, Allen T, Alfaro JA, Bloomfield G, Beach J, Dahlgren K, Davis NK, Fontana E, Gennatas S, Ghafoor Q, Housseau F, Lubelski D, Zhang Z, Hancock M, Ince W, James D, Khan S, Kunene V, McGrane J, Millen GC, Moxley-Wyles B, Narganes-Carlon D, Payne M, Ross PJ, Roux R, Rowe M, Lee R, Lee JSH, Liu JKH, Aggarwal D, Teoh ABS, Thirlwell C, Tilby M, Symeonides S, Watts I, Agus DB, Ono SJ, Elliott T, Calleja P, Lee LYW.   +44 more
europepmc   +1 more source

Constructing national identity in public health crises: a comparative DHA study of China and the United States (2003-2023). [PDF]

Front Public Health
Wu W.
europepmc   +1 more source

The influence of perceived landscape value on tourists' behavioral intentions in historical and cultural blocks. [PDF]

PLoS One
Du J, Wang Y.
europepmc   +1 more source

Capacity of the U.S. federal system for cultural heritage to meet challenges of climate change. [PDF]

Proc Natl Acad Sci U S A
Rockman M.
europepmc   +1 more source

A systematic review of global COVID-19 vaccine PPPs: drivers and barriers to governance alignment. [PDF]

Front Public Health
Qi X.
europepmc   +1 more source

Bringing biomass out from behind the scenes: An alternative approach to biomass policy design for a sustainable transition to net zero

Taylor D, Röder M.
europepmc   +1 more source