Results 111 to 120 of about 18,679,151 (297)

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

Four new species and new synonymy in Stenocerus Schoenherr, 1826 (Coleoptera, Anthribidae, Anthribinae, Stenocerini)

, 2018
Lopes, Marcela Paes De A. M., Mermudes, José Ricardo M. (2018): Four new species and new synonymy in Stenocerus Schoenherr, 1826 (Coleoptera, Anthribidae, Anthribinae, Stenocerini). Zootaxa 4472 (3): 471-488, DOI: 10.11646/zootaxa.4472.3.
MARCELA PAES DE A. M. LOPES, Mermudes, José Ricardo M., JOSÉ RICARDO M. MERMUDES, Lopes, Marcela Paes De A. M.   +3 more
core   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley   +1 more source

An annotated checklist of agarics and boleti recorded from New Zealand

, 1987
Records of some 600 species of agarics and boleti published for New Zealand prior to 1986 are listed, including bibliography, synonymy, and reference to ...
Segedin, B.P.
core  

A new synonymy and a new species of Mydidae (Diptera) from Madagascar

, 2009
Kondratieff, B. C. (2009): A new synonymy and a new species of Mydidae (Diptera) from Madagascar. Zootaxa 2325 (1): 65-67, DOI: 10.11646/zootaxa.2325.1.6, URL: https://biotaxa.org/Zootaxa/article/view/zootaxa.2325.1.
Kondratieff, B. C.
core   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

Australian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton, Tania Signal, Jenni A. Judd   +2 more
wiley   +1 more source

Type and new combination for Stellaria lanceolata and a new synonymy for S. rotundifolia (Caryophyllaceae)

, 2006
Volponi, Carola Regina (2006): Type and new combination for Stellaria lanceolata and a new synonymy for S. rotundifolia (Caryophyllaceae).
Volponi, Carola Regina
core   +1 more source

Artificial Intelligence and Access to Justice at the ‘Shop Front’: The Potential and Limitations of Meeting Legal Need Through Technology

Australian Journal of Social Issues, EarlyView.
ABSTRACT In Australia, governments fund Community Legal Centres (CLCs) as part of the legal assistance sector (LAS) to meet the ‘legal needs’ of people experiencing disadvantage who cannot afford private legal services. Persistent unmet demand for CLCs is well‐documented. As artificial intelligence (AI) is increasingly used in private legal practice to
Catherine Hastings, Art Cotterell, Farzana Bruce   +2 more
wiley   +1 more source

A new species, new synonymy and new records of Mexican and Central American Xyleborini (Coleoptera: Curculionidae: Scolytinae)

, 2018
Atkinson, Thomas H. (2018): A new species, new synonymy and new records of Mexican and Central American Xyleborini (Coleoptera: Curculionidae: Scolytinae).
Atkinson, Thomas H., THOMAS H. ATKINSON
core   +1 more source

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

Australian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen, Edward J. O'Connor, Megan Rebuli, Tiana Thorne, Naomi Kakoschke, Ray Mahoney   +5 more
wiley   +1 more source