Results 201 to 210 of about 110,072 (307)

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Long-term, age-associated activity quantification in the DE50-MD dog model of Duchenne muscular dystrophy

Disease Models & Mechanisms
Kamila Karimjee, Rachel C. M. River, Emil Olsen, Yu-Mei Chang, Dominic J. Wells, Monica A. Daley, Richard J. Piercy   +6 more
doaj   +1 more source

Elucidating motion patterns in sperm cell motion with dynamic mode decomposition. [PDF]

J Biol Phys
Šimánek P, Hořenín J, Khalil ISM, Magdanz V, Klingner A, Kovalenko A.   +5 more
europepmc   +1 more source

askhamwhat/dmd-varpro-paper-examples: optdmd figure generation

, 2017
Travis Askham
openalex   +2 more sources

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study. [PDF]

Transl Pediatr
Qian G, Yang R, Huang X, Wu D, Fang K, Zhao Z.   +5 more
europepmc   +1 more source

Democratising Multi‐Projector Displays

Computer Graphics Forum, EarlyView.
Spatially augmented reality (SAR) transforms large, surround, collaborative experiences out of VR/AR headsets to the real world by merging content from projectors with the physical environment. This detailed state‐of‐the‐art survey reports on the advancements in multi‐projector aggregation and hardware technologies used to achieve SAR and build ...
Aditi Majumder, Muhammad Twaha Ibrahim
wiley   +1 more source

Ultra-high-speed holographic data storage system based on extending data page size. [PDF]

Sci Rep
Lin Y, Ke S, Xu X, Liu H, Yang R, Lin D, Tan X.   +6 more
europepmc   +1 more source

A Real‐Time Multi‐Scale Neural Representation for Complex Surface Reflectance

Computer Graphics Forum, EarlyView.
Abstract Recent machine learning methods have significantly advanced the state of the art in the classic problem of representing surface appearance over angle, space, and scale. The models tend, however, to be relatively heavy compared to traditional fixed‐function representations, making real‐time application challenging.
Heikki Timonen, Pauli Kemppinen, Jaakko Lehtinen   +2 more
wiley   +1 more source

Progress on cell therapy for skeletal muscle disorders. [PDF]

Adv Drug Deliv Rev
Azzag K, Perlingeiro RCR.
europepmc   +1 more source