Results 241 to 250 of about 7,549,002 (298)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Semantic Mapping of Public Health Legislation and Emergency Legal Responses Using Natural Language Processing Techniques. [PDF]

Risk Manag Healthc Policy
Wang D, Guan Z, Wu B.
europepmc   +1 more source

Parkinson Disease Subtype Stability and Eventual Convergence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell   +10 more
wiley   +1 more source

Enhancing cervical squamous cell carcinoma diagnosis under distribution shift via domain-adaptive representation learning. [PDF]

iScience
Huang Z, Liu Y, Jin S, Wang Y, Fu M, Ouyang J, Yu D, Zhu T, Zeng F, Pan X, Ye J, Wang J, He X, Cheng X, Zhao M, He Y, Zhang H, Hu B.   +17 more
europepmc   +1 more source

Molecular Diagnosis in Children With Febrile Seizures: Beyond the Conventional Clinical Classification

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Febrile seizures (FS) are currently classified as simple or complex primarily to describe seizure characteristics, with limited ability to identify the underlying etiology. We evaluated whether molecular diagnosis could complement conventional classification and improve the diagnosis and management of FS.
Jia Wang, Mengna Zhang, Yangyang Wang, Xiuyu Shi, Baoguang Li, Xiuxia Wang, Dan Sun, Sanqing Xu, Jianbo Zhao, Lijun Du, Qiming Pang, Xiaoming Liu, Chunhui Tang, Xiaohua Li, Jiuwei Li, Yanli Ma, Jianxiang Liao, Gulixian Abudureyimu, Jianmin Liang, Yuan Wang, De Wu, Jian Wu, Liping Zou   +22 more
wiley   +1 more source

Reporting-source differences in associations between student-perceived relationships with teachers and social-emotional skills: evidence from the Suzhou SSES 2019 sample. [PDF]

Front Psychol
Zhu R, Wang B, Chen X, Kong X.
europepmc   +1 more source

Multi-environment evaluation and decision-level analysis of clinical prediction models under dataset shift. [PDF]

Front Digit Health
Robalino-Díaz J, Cabrera-Andrade A, Zambrano AK, Villegas-Ch W.   +3 more
europepmc   +1 more source

A Two-Stage Multi-Source Unilateral Alignment Method for Rail Insulation Fault Localization Under Target-Domain Missing-Class Conditions. [PDF]

Sensors (Basel)
Li Q, Chen B, Du G, Li X, Zhou T.
europepmc   +1 more source

The dashboard says "perfect:" a systematic audit of label-free model monitoring and test-time adaptation under temporal distribution shift in network intrusion detection. [PDF]

Front Artif Intell
Ahmed W, Rahaman MA, Roy P, Alam P.
europepmc   +1 more source