Results 81 to 90 of about 40,236 (263)

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

Durability of Rock Armour on Coastal Structures

Coastal Engineering 1986, 1986
This paper summarises many of the recent advances in the testing of rock quality for coastal structures. Advanced work on armour profile and armour unit shape descriptors is identified. A set of assessment methods for monitoring armoured slopes in the field are described, with examples drawn from recent monitoring exercises.
A.P. Bradbury, N.W.H. Allsop
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

ECONOMICS OF COASTAL STRUCTURES

Coastal Engineering Proceedings, 1951
The engineer is constantly called upon to make an economic analysis of proposed engineering works. His analysis is just as trustworthy as his base information. In some cases experience and knowledge are so complete that an estimate can be accepted with assurance of great accuracy.
openaire   +2 more sources

Functional morphology of the pharyngeal teeth of the ocean sunfish, Mola mola

The Anatomical Record, EarlyView.
Abstract Many fish use a set of pharyngeal jaws in their throat to aid in prey capture and processing, particularly of large or complex prey. In this study—combining dissection, CT scanning, histology, and performance testing—we demonstrate a novel use of pharyngeal teeth in the ocean sunfish (Mola mola), a species for which pharyngeal jaw anatomy had ...
Benjamin Flaum, Michael J. Blumer, Mason N. Dean, Laura J. Ekstrom   +3 more
wiley   +1 more source

Study on Scouring at the Foot of Coastal Structures

Coastal Engineering 1968, 1968
This paper presents the results of two-dimensional model experiments conducted in order to clarify the basic characteristics and to find out some preventive measures against scouring around coastal structures. The applicability of these results to the field are discussed on the basis of some results of field investigations.
Shoji Sato, Norio Tanaka, Isao Irie
openaire   +2 more sources

Functional models from limited data: A parametric and multimodal approach to anatomy and 3D kinematics of feeding in basking sharks (Cetorhinus maximus)

The Anatomical Record, EarlyView.
Abstract Basking sharks, Cetorhinus maximus (Gunnerus, Brugden [Squalus maximus], Det Kongelige Norske Videnskabers Selskabs Skrifter, 1765, vol. 3, pp. 33–49), feed by gaping their mouths and gill slits, greatly reorienting their cranial skeletons to filter food from water.
Tairan Li, Mike Schindler, Martha Paskin, Venkata A. Surapaneni, Elliott Scott, Sabine Hauert, Nicholas Payne, David E. Cade, Jeremy A. Goldbogen, Frederik H. Mollen, Daniel Baum, Sean Hanna, Mason N. Dean   +12 more
wiley   +1 more source

Early Pliocene Varanus (Squamata, Varanidae) remains from Megalo Emvolon, Thessaloniki, Greece

The Anatomical Record, EarlyView.
The article describes new cranial and postcranial varanid material from Megalo Emvolon Lower Pliocene vertebrate fossil site near Thessaloniki. The fossils, likely representing a single individual, are referred to Varanus cf. marathonensis. Abstract This study describes new fossil varanid material from a recently discovered fossil spot (MVL site) at ...
Chara Drakopoulou, Georgios L. Georgalis, Georgios Lazaridis, Dimitris S. Kostopoulos   +3 more
wiley   +1 more source

VOID POROSITY MEASUREMENTS IN COASTAL STRUCTURES

Coastal Engineering 2002, 2003
Civil Engineering and ...
Bosma, C. (author), Verhagen, H.J. (author), D'Angremond, K. (author), Sint Nicolaas, W. (author)   +3 more
openaire   +3 more sources

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