Results 181 to 190 of about 76,327 (307)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Research on a Hexapod Hybrid Robot with Wheel-Legged Locomotion and Bio-Inspired Jumping for Lunar Extreme-Terrain Exploration. [PDF]

Biomimetics (Basel)
Han L, Li E, Jiang S, Xu K, Wang X, Ding X, Zhang C.   +6 more
europepmc   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

A Unified Control Framework for Self-Balancing Robots: Addressing Model Variations in Wheel-Legged Platforms and Human-Carrying Wheelchairs. [PDF]

Sensors (Basel)
Xin G, Jin B, Liu C, Jiang M.
europepmc   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Predictive Registry Optimization of Molecular Adsorbates on Solid Surfaces

Angewandte Chemie, EarlyView.
Local C–H “spikes” from a π‐conjugated backbone lock into graphene “pockets”. A geometric registry score turns images obtained by scanning tunneling microscopy at the solid/liquid interface into atomic‐scale adsorption models, enabling assignment of surface atropisomers in large π‐conjugated molecules.
David A. Hofmeister, Christian E. Selzer, Laura zur Horst, Simon C. Rickert, Julia Kohn, Andreas Hansen, Stefan‐S. Jester, Sigurd Höger   +7 more
wiley   +2 more sources

Modular 4WD agricultural robot for cutting, collection, and precision seeding: design and simulation-based evaluation. [PDF]

Sci Rep
Kumar A, Kamalaksha SA, Srividya R, Zuber M, Ahmad KA, Singh S, Nair VG.   +6 more
europepmc   +1 more source

Transition From Primary to Secondary School: Igniting Attendance and Engagement Among Aboriginal and Torres Strait Islander Students Through National Policy Reform

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australia's Closing the Gap reform aims to address disparities experienced by Aboriginal and Torres Strait Islander peoples. There are specific targets focussed on key educational transitions; yet, the transition to secondary education is not a targeted priority.
Azhar Hussain Potia, Kai W. Wheeler, Tracy Woodroffe, Karen Thorpe   +3 more
wiley   +1 more source

Computer Vision Enables Monitoring and Kinetic Analysis of Structurally Diverse Carbon Monoxide Surrogates

Angewandte Chemie, EarlyView.
A non‐contact computer vision method enables monitoring and quantitative comparison of vessel‐specific CO release kinetics from structurally diverse surrogates in two‐chamber COware reactors, revealing that surrogate reactivity scores correlate with carbonylation reaction outcomes.
Kristin Donnachie, Ciaran Griffin, Morven L. Gray, Timothy J. D. McCabe, Marc Reid   +4 more
wiley   +2 more sources

PlatROB: An open-source, modular, and low-cost hardware platform for mobile robotics and AI education. [PDF]

HardwareX
Balbuena J, Sinche J, Quiroz D, Arce D, Villota E.   +4 more
europepmc   +1 more source