Results 71 to 80 of about 2,702,396 (339)

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

Towards Equitable Access: Improving Library Services for Distance Learning Students

Libri
The plans and activities of academic libraries revolve around a user-centered approach to make noticeable improvements in the use of library resources and services.
Atuase Diana, Maluleka Jan, Ayensu Eunice   +2 more
doaj   +1 more source

Resonance characteristics and impact of the 2006 Pingtung tsunami in southern Taiwan

Geoscience Letters, 2023
Tsunami resonance excitation induces tsunami amplification, persistent oscillation, and strong current velocities, which may enlarge coastal hazards in tsunamigenic areas.
An-Chi Cheng, Anawat Suppasri, Kwanchai Pakoksung, Fumihiko Imamura   +3 more
doaj   +1 more source

South Coast

, 1971
(Uploaded by Plazi from the Biodiversity Heritage Library) No abstract provided.
openaire   +2 more sources

Australian Practitioners' Beliefs, Confidence, and Training Needs for Delivering Behaviour Support to Children and Young People in Out‐of‐Home Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Children in out‐of‐home care (OOHC) frequently present with complex behavioural needs. In New South Wales (NSW), behaviour support plans (BSPs) are mandated when restrictive practices, including psychotropic medication, are used. Little research has examined whether the statutory workforce is adequately prepared to meet behaviour support ...
Manisha Abayakoon Stanborough, Kelly‐Ann Allen, Emily Berger, Mikaela Stanborough, Erin Leif   +4 more
wiley   +1 more source

On the key influence of remote climate variability from Tropical Cyclones, North and South Atlantic mid-latitude storms on the Senegalese coast (West Africa)

Environmental Research Communications, 2019
The low-lying Senegalese sandy coast is extremely vulnerable to marine flooding and erosion. Using climate and wave reanalysis, we establish the remote connections between Atlantic climate modes and coastal wave variability in Senegal.
R. Almar, E. Kestenare, J. Boucharel
semanticscholar   +1 more source

How Are Australian Local Governments Responding to the Homelessness Crisis? Findings From a National Study

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian local governments are facing intensifying pressures to respond to worsening visible homelessness. This paper presents one of the first national studies on how local governments are responding to these pressures, and the first since the onset of the post‐pandemic housing crisis.
Andrew Clarke, Joelle Moore, Fatemeh Aminpour, Katya Eagles   +3 more
wiley   +1 more source

Indigenous edible plant use by contemporary Khoe-San descendants of South Africa's Cape South Coast

, 2016
There is evidence that hunter-gatherer societies of both the Middle and the Later Stone Ages in the Cape Floristic Region (CFR) used many plant species, particularly those with underground storage organs (USOs), as sources of carbohydrate.
J. D. Vynck, B. Wyk, R. Cowling
semanticscholar   +1 more source

Origin, evolution and biogeographic dynamics of the European rabbit (Oryctolagus cuniculus) in Southwestern Europe

The Anatomical Record, EarlyView.
Abstract The Pleistocene is a key period for understanding the evolutionary history and palaeobiogeography of the European rabbit (Oryctolagus cuniculus). The species was first documented in southeastern Iberia at the beginning of the Middle Pleistocene and appears to have rapidly spread throughout Southwestern Europe, where it was found in numerous ...
Maxime Pelletier
wiley   +1 more source

History of research and management of the loggerhead turtle on the South Carolina coast [PDF]

, 1999
Sea turtle nesting projects in South Carolina data back to the 1930's. In the last decade the Department of Natural Resources' Wildlife Diversity Section has been standardizing the nesting projects methodology and the data that is collected.
Hoyle, Margaret E., Hope, Charlotte P., U.S. Fish and Wildlife Service, Hopkins-Murphy, Sally, South Carolina Wildlife & Freshwater Fisheries Division   +4 more
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