Results 181 to 190 of about 123,614 (247)

Nonlinear flexibility effects on flight dynamics of high-aspect-ratio wings. [PDF]

J Eng Appl Sci
Tantaroudas ND, Karachalios I.
europepmc   +1 more source

A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2166-2171, October 2026.
ABSTRACT Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16‐year‐old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy ...
Juan Darío Ortigoza‐Escobar, Laura Marti‐Sánchez, Loreto Martorell, Giorgia Dinoi, Antonio Vittorio Buono, Annamaria De Luca, Antonella Liantonio, Paola Imbrici   +7 more
wiley   +1 more source

Sustainable Fabrication of Tailored Bone Substitutes: From High‐Throughput Scaffold Manufacturing, Scaled‐Up HMSC Expansion to Dynamic Cultivation in a Perfusion Bioreactor

Advanced Science, Volume 13, Issue 56, 9 October 2026.
ABSTRACT The demand for off‐the‐shelf biocompatible bone substitutes has driven the development of numerous independent in vitro technologies to generate products resembling physiological tissues. Due to technical challenges and overly simplified cultivation approaches/niches, the end‐products are often uniformly shaped and inferior to native bone ...
Franziska Braun, Anna Paříková, Sandra Rother, Martin Kantor, Salman Muhammad Ilyas, Ricardo Bernhardt, Pavel Ndjawa Yomi, Jaromír Havlica, Revathi Appali, Benjamin Kruppke, Poh Soo Lee   +10 more
wiley   +1 more source

Adult-recognized 22q11.2 deletion syndrome in adult neurology practice: a brief report of two diagnostic pitfalls. [PDF]

Front Neurol
Wu D, Wang Y, Sun D, Wang J, Wang X.
europepmc   +1 more source

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

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2338-2344, October 2026.
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, Isabella Pfundt, 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   +123 more
wiley   +1 more source

Amyotrophic lateral sclerosis -plus patient with an intermediate-length <i>CACNA1A</i> allele: a Case Report. [PDF]

Front Genet
Gao X, Wang T, Chen S, Ma Y, Wei Q, Li C, Shang H, Chen X.   +7 more
europepmc   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Bridging Biology and Engineering: Unsteady Aerodynamics and Biomimetic Design of Micro Air Vehicles. [PDF]

Biomimetics (Basel)
Prisăcariu EG, Dumitrescu O.
europepmc   +1 more source

Computational Role in Thermal Engineering and Chemical Analytics During the Rotating Disk of Generalized Williamson Viscosity and Thermal Conductivity

Advanced Physics Research, Volume 5, Issue 10, October 2026.
The schematic diagram shows the flow configuration of the model. The swirling flow of shear‐thinning materials is significantly investigated under the influence of mixed convection. In addition, heat and mass transfer flow characteristics along with gyrotactic microorganisms is also investigated. ABSTRACT Thermal conductivity, temperature gradient, and
Latif Ahmad, Hafiz Ur Rahman, Umair Khan, Syed Modassir Hussain   +3 more
wiley   +1 more source

Bio-Inspired Blade Cascades: Numerical Predictions Versus Experimental Measurements. [PDF]

Biomimetics (Basel)
Totu AG, Crunțeanu DE, Isvoranu D.
europepmc   +1 more source