Results 31 to 40 of about 1,205,232 (260)

Identification of pathogenic mutations in 6 Chinese families with multiple exostoses by whole-exome sequencing and multiplex ligation-dependent probe amplification

Medicine, 2019
Abstract Rationale: Hereditary multiple exostoses (HMEs) is an autosomal dominant skeletal disorder. Patient concerns: Six probands of the 6 unrelated Han Chinese families were identified as having HME.
Long, Xigui, Li, Zhuo, Huang, Yanru, Zhang, Li, Lv, Weigang, Teng, Yanling, Linpeng, Siyuan, Liang, Desheng, Wu, Lingqian   +8 more
openaire   +2 more sources

Modeling Human Understanding of Complex Intentional Action with a Bayesian Nonparametric Subgoal Model

, 2015
Most human behaviors consist of multiple parts, steps, or subtasks. These structures guide our action planning and execution, but when we observe others, the latent structure of their actions is typically unobservable, and must be inferred in order to ...
Baker, Chris L., Nakahashi, Ryo, Tenenbaum, Joshua B.   +2 more
core   +1 more source

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review

BMC Medical Genomics
Supplementary Material 1.
Lin, Dong-Fang, Sheng, Huan, Qu, Qiang, Liao, Ze-Tao   +3 more
openaire   +3 more sources

Decomposition-Aware Framework for Probabilistic and Flexible Time Series Forecasting in Aerospace Electronic Systems

Mathematics
Degradation prediction for aerospace electronic systems plays a crucial role in maintenance work. This paper proposes a concise and efficient framework for multivariate time series forecasting that is capable of handling diverse sequence representations ...
Yuanhong Mao, Xin Hu, Yulang Xu, Yilin Zhang, Yunan Li, Zixiang Lu, Qiguang Miao   +6 more
doaj   +1 more source

New Optimized Adaptive Time Series IDS Classifier Algorithm: Beyond Deep Learning

IEEE Access, 2023
Adaptive time series Intrusion Detection System (IDS) Classifier is essential to detect real-time cyber-threats. Meanwhile, optimized hyperparameters on time series IDS classifier model will ensure swift detection. However, current studies on Time Series
Saiyed Rasol Bin Tuan Muda, Mohammad Hafiz Mohd Yusof, Khaled Mofawiz Alfawaz, Mohammed Balfaqih, Abdulrahman Alzahrani   +4 more
doaj   +1 more source

Statistical inference of the generation probability of T-cell receptors from sequence repertoires

, 2012
Stochastic rearrangement of germline DNA by VDJ recombination is at the origin of immune system diversity. This process is implemented via a series of stochastic molecular events involving gene choices and random nucleotide insertions between, and ...
A. M. Walczak, A. Murugan, Arstila, Blum, C. G. Callan, Cabaniols, Gauss, Lafaille, Lieber, Lieber, Mason, Monod, Robins, Schatz, T. Mora, Venturi, Verkaik, Wang, Weinstein   +18 more
core   +1 more source

Management of panfacial and complex facial fractures: A Belgaum perspective – Case series

Indian Journal of Health Sciences and Biomedical Research KLEU, 2023
Multiple facial bone fractures usually are consequential to severe injuries secondary to motor vehicle calamities. These complex and panfacial fractures are usually associated with multiple systemic injuries that mandate a multidisciplinary approach to ...
Vijaylaxmi Shettar, Shridhar Damodar Baliga, Sanjay S Rao, Prashasti Sharma, Kritika Pandey   +4 more
doaj   +1 more source

Correlation between genome reduction and bacterial growth [PDF]

, 2016
Genome reduction by removing dispensable genomic sequences in bacteria is commonly used in both fundamental and applied studies to determine the minimal genetic requirements for a living system or to develop highly efficient bioreactors.
Kurokawa Masaomi, Matsuda Hideo, Seno Shigeto, Ying Bei-Wen, 應 蓓文   +4 more
core   +1 more source

The effects of promoter methylation on downregulation of DAZAP2 in multiple myeloma cell lines. [PDF]

PLoS ONE, 2012
Our previous studies had shown that DAZAP2 was profoundly downregulated in bone marrow mononuclear cells from multiple myeloma patients. In this report, we analyzed epigenetic changes in multiple myeloma cell lines to understand the molecular mechanisms ...
Sai-Qun Luo, Jing-Ping Hu, Qiang Qu, Jiang Li, Wei Ren, Jia-Ming Zhang, Yan Zhong, Wei-Xin Hu   +7 more
doaj   +1 more source

Personalized Selumetinib Dosing in Pediatric Neurofibromatosis Type 1: Insights From a Pilot Therapeutic Drug Monitoring Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate selumetinib exposure using therapeutic drug monitoring (TDM) in pediatric patients with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PN), assess interpatient pharmacokinetic variability, and explore the relationship between drug exposure, clinical response, and adverse effects.
Janka Kovács, Zoltán Köllő, Balázs Gellért Karvaly, Mahmoud Obeidat, Rita Nagy, Péter Hegyi, Brigitta Teutsch, Eszter Tuboly, Miklós Garami   +8 more
wiley   +1 more source