Results 91 to 100 of about 13,282 (244)
A Hybrid Transfer Learning Framework for Brain Tumor Diagnosis
Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.A novel hybrid transfer learning approach for brain tumor classification achieves 99.47% accuracy using magnetic resonance imaging (MRI) images. By combining image preprocessing, ensemble deep learning, and explainable artificial intelligence (XAI) techniques like gradient‐weighted class activation mapping and SHapley Additive exPlanations (SHAP), the ...
Sadia Islam Tonni +11 more
wiley +1 more source
ChatMolData: A Multimodal Agent for Automatic Molecular Data Processing
Advanced Intelligent Systems, EarlyView.While large language models (LLMs) struggle with molecular data due to single‐modality limitations, ChatMolData—a multimodal agent for processing databases, images, structure files, and documents—is presented. It combines LLMs with tools for retrieval, structuring, prediction, visualization, and search, achieving > 90% accuracy across 128 tasks.
Yi Yu +5 more
wiley +1 more source
Hemoglobin McKees Rocks (alpha2beta2145Tyr leads to Term). A human "nonsense" mutation leading to a shortened beta-chain. [PDF]
, 1976 R. M. Winslow +5 more
openalex +1 more source
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
Paradoks kłamcy (Liar Paradox) [PDF]
Analiza i Egzystencja, 2011 The aim of the article is to determine what role the liar sentence plays in our language. On the one hand, it seems to be well formed formula, and on the other, it does not seem to have any clear sense.
Jan Wawrzyniak
doaj
beta 0 thalassemia, a nonsense mutation in man. [PDF]
, 1979 Judy C. Chang, Y Kan
openalex +1 more source
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri +3 more
wiley +1 more source
Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore +11 more
wiley +1 more source
A Suppressor of Nonsense Mutations in Bacillus subtilis [PDF]
, 1974 Ana Camacho +4 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Prader‐Willi syndrome (PWS) is a neurodevelopmental disorder typically caused by large deletions or imprinting defects on chromosome 15q11.2, encompassing multiple genes. While the contribution of individual genes to the PWS phenotype remains unclear, previous studies suggested that isolated deletions of MAGEL2, NDN, and MKRN3, excluding the ...
Jannis Buecking +6 more
wiley +1 more source