Results 211 to 220 of about 3,349,140 (303)

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders. [PDF]

NPJ Digit Med
Chen F, Ahimaz P, Nguyen QM, Lewis R, Chung WK, Ta CN, Szigety KM, Sheppard SE, Campbell IM, Wang K, Weng C, Liu C.   +11 more
europepmc   +1 more source

Revisiting Stability Criteria in Ball‐Milled High‐Entropy Alloys: Do Hume–Rothery and Thermodynamic Rules Equally Apply?

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
The stability criteria affecting the formation of high‐entropy alloys, particularly focusing in supersaturated solid solutions produced by mechanical alloying, are analyzed. Criteria based on Hume–Rothery rules are distinguished from those derived from thermodynamic relations. The formers are generally applicable to mechanically alloyed samples.
Javier S. Blázquez, Alejandro F. Manchón‐Gordón, Antonio Vidal‐Crespo, Rafael Caballero‐Flores, Jhon J. Ipus, Clara F. Conde   +5 more
wiley   +1 more source

Is an Apple an Orange? A Large Language Model Benchmark for Candidate Term Extraction and Subclass Decisions Against Upper Ontologies in Engineering and Materials Science

Advanced Engineering Materials, EarlyView.
Building machine‐readable vocabularies for materials science is slow, expert‐driven work. This study benchmarks 13 large language models on two of its first steps: finding candidate terms in engineering articles and deciding where they belong in a class hierarchy.
Thomas Bjarsch, Maximilian Holland, Klaus Drechsler, Johannes Schilp   +3 more
wiley   +1 more source

Editorial: Diagnosis and identification of novel disorders and ultra-rare disorders in science and clinical routine. [PDF]

Front Genet
Durmus H.
europepmc   +1 more source

Physics‐Grounded Materials Artificial Intelligence for Reliable Materials Discovery

Advanced Functional Materials, EarlyView.
Physics‐Grounded Materials AI (PhysMat AI) integrates physical priors, descriptors, constraints, verification, and data infrastructure into a unified full‐stack framework, enabling reliable, interpretable, and autonomous AI‐driven materials discovery.
Yuhang Wang, Qian Wang, Seong‐Hoon Jang, Hao Li   +3 more
wiley   +1 more source

Access to Information Cited in National Organization for Rare Disorders Reports.

JAMA Netw Open
Fu M, Ling K, Zhou X, Dave S, Li C, Shi L, Guan X, Ross JS.   +7 more
europepmc   +1 more source

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. [PDF]

Am J Med Genet A
Tan QK, McConkie-Rosell A, Brown RM, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M, Undiagnosed Diseases Network, Adams DR, Hisama FM, Shashi V.   +25 more
europepmc   +1 more source

Ultrathin Amphipathic Dual‐Polymer Networks: Unlocking Hyper‐Permeable CO2 Capture via Solvent‐Mediated Poly(Ethylene Oxide) Amorphization

Advanced Functional Materials, EarlyView.
Hydrophilic PEO‐copolymers and hydrophobic PDMS are physically integrated via a compatibilizing solvent into an amphipathic dual‐polymer network with versatile interfacial affinity and completely amorphized PEO segments for hyper‐permeable CO2 transport.
Ji Wu, Fan Feng, Baiwang Zhao, Jordan Yuan Zhe Ng, Kaiyu Wang, Can Zeng Liang, Guangtai Zheng, Boxuan Zhao, Tai‐Shung Chung, Sui Zhang   +9 more
wiley   +1 more source

Inflammation Unchecked: Concurrent Kawasaki Disease and Stevens‐Johnson Syndrome in an 18‐Month‐Old Child

Arthritis Care &Research, EarlyView.
Catherine Deffendall, Jodi Backalar, Elizabeth Acevedo Zapata, Adriana Della Porta, Lorin Bibb, Tyler Reese, Charlotte M. Brown   +6 more
wiley   +1 more source

Ground‐State Charge‐Transfer Doping in Donor–Acceptor Semiconducting Polymers

Advanced Functional Materials, EarlyView.
This work demonstrates controlled ground‐state charge‐transfer complex formation (GS‐CTC) and doping in a series of diketopyrrolopyrrole‐based donor–acceptor semiconducting polymers paired with a π‐conjugated penta‐t‐butylpentacyanopentabenzo[25]annulene “cyanostar” macrocycle. Complementary experimental techniques show how subtle molecular, electronic,
Tanner L. Smith, Akshay N. Shah, Tanya A. Balandin, Michel De Keersmaecker, Paramasivam Mahalingam, Debapriya Gupta, Siqi Yu, Eui Hyun Suh, Pushkar Dalal, Erin L. Ratcliff, Scott P. O. Danielsen, Tse Nga Ng, Amar H. Flood, Jason D. Azoulay   +13 more
wiley   +1 more source