Results 101 to 110 of about 18,597 (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

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Regional and Compartmental Changes Drive Progressive Patterns of Striatal Degeneration in X‐Linked Dystonia Parkinsonism

Annals of Neurology, EarlyView.
Objective Initially described in 1976, X‐linked dystonia parkinsonism (XDP) is a neurodegenerative disease that can be characterized by the presentation of dystonia and parkinsonism symptoms. Although this disease bears some resemblance to other neurodegenerative diseases in terms of symptomatology, the pathological signature of XDP is still unclear ...
Adelie Y.S. Tan, Nakhon. S.S.S. Thai, Christine J. Arasaratnam, Seung A. Han, Ellen B. Penney, Geraldine Acuña‐Sunshine, Cid Czarina E. Diesta, Mark C. Ang, Edwin Muñoz, Cara Fernandez‐Cerado, Victor Cleofas, G. Paul Legarda, Salvie Velasco, Michelle A. Sy, Clinton P. Turner, Mike Dragunow, Maurice A. Curtis, Ann. M. Graybiel, Richard L.M. Faull, Malvindar K. Singh‐Bains   +19 more
wiley   +1 more source

Research on Heat Transfer Enhancement of Spiral Grooved Tube Heat Exchangers Based on CFD and Artificial Intelligence

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Driven by the energy crisis and carbon neutrality goals, high‐efficiency heat exchange equipment has become a core demand in the industrial sector. The spiral grooved double‐pipe heat exchanger exhibits significant heat transfer enhancement advantages, yet it requires balancing heat transfer efficiency and pressure loss.
Yueyun Yang, Wei Li, Xiuzhi Xi, Neng Gao
wiley   +1 more source

Experimental and theoretical analysis of magnetic-thermal-mechanical coupling of permanent magnet coupling

AIP Advances
Permanent magnet coupling (PMC) generates a large amount of thermal energy due to the eddy current induced in the metal isolation cylinder, resulting in performance degradation. The magnetic-thermal-mechanical coupling analysis has an important impact on
Kun Liu, Hanyang Gao, Guoxin Hu, Hongbiao Cui   +3 more
doaj   +1 more source

The calculation of Eddy current losses

The calculation of Eddy current losses
種別 ...
openaire  

Bioconvective Unsteady Casson Hybrid Nanofluid Flow on a Variable Darcy Regime Between Two Rotating Disks With Variable Heat Source

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This study carries significant consequences in various engineering applications, such as cooling rotating disk surfaces, improving chemical reactor performance, and designing filtration systems. Considering these main applications in view, the aim of this study is to investigate time‐dependent Casson hybrid nanofluid flow on a permeable ...
Ebrahem A. Algehyne, Abdul Bariq, Mounirah Areshi, Fahad Maqbul Alamrani, Zehba Raizah, Izharul Haq, Anwar Saeed   +6 more
wiley   +1 more source

Grid Independence Study and a Finite Difference Collocation Approach for Magnetized CeO2‐Ti3C2/H2O Hybrid Nanofluid Flow Over an Inclined Spinning Disk With Newtonian Heating

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This work examines magnetohydrodynamic (CeO2, Ti3C2/H2O) hybrid nanofluid (HNF) flow on an inclined revolving disk with effects of Newtonian heating. HNF is obtained by suspending the nanoparticles (NPs) of CeO2 and Ti3C2 in water (H2O). The flow is affected by mixed convection, Joule heating, nonlinear thermally radiative and dissipative ...
Ebrahem A. Algehyne, Abdul Bariq, Mounirah Areshi, Fahad Maqbul Alamrani, Zehba Raizah, Izharul Haq, Anwar Saeed   +6 more
wiley   +1 more source

Streamline and Isotherm Visual Analysis of Darcy–Forchheimer von Karman Spinning Flow of Maxwell Fluid Over a Stretching Disk With Quadratic Temperature‐Dependent Heat Source

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This research paper provides an extensive study of the effects of Darcy–Forchheimer von‐Karman spinning flow of Maxwell fluid across a stretching disk including the effect of heat generation based on a nonlinear function of temperature. The flow system is influenced by thermal radiations and Arrhenius activation energy.
Ebrahem A. Algehyne, Mounirah Areshi, Fahad Maqbul Alamrani, Zehba Raizah, Mustafa Bayram, Jihad Younis, Anwar Saeed   +6 more
wiley   +1 more source

Multi‐method analysis for the three‐dimensional reconstruction of muscle fascicles from DiceCT datasets

The Anatomical Record, EarlyView.
Abstract Muscle architecture is a major determinant of muscle performance and, in mammalian lineages, has been correlated with both feeding ecology and locomotor behaviors. Over the past decade, contrast‐enhanced micro‐CT (DiceCT) has emerged as an alternative to traditional dissection‐based measurement.
Aleksandra Ratkiewicz, Michael C. Granatosky, Cassidy E. Davis, Julia Molnar, Adam Hartstone‐Rose, Edwin Dickinson   +5 more
wiley   +1 more source