Results 201 to 210 of about 3,270,928 (337)

R‐APEX: A Knowledge Graph–Based Platform for the Elucidation of the Toxicological Mechanisms of Ambient Particulate Matter

open access: yesAdvanced Intelligent Systems, EarlyView.
R‐APEX is a knowledge graph platform developed to investigate how air pollutants such as particularly fine particulate matter (PM2.5) affect human health. By integrating large‐scale biomedical data and using machine learning, it reveals pollutant–gene–disease associations.
Zhixing Zhu   +7 more
wiley   +1 more source

Hierarchical Superposition Framework Reveals the Complex Effects of Natural Medicine Formulas

open access: yesAdvanced Intelligent Systems, EarlyView.
A novel hierarchical superposition pharmacological model incorporates the principle of hierarchical structures from physics to simulate the spatiotemporal dynamics of drug combinations, to elucidate the universal law underlying drug combination effects. By modeling cross‐level causal transmission and attenuation, it advances beyond traditional additive
Weifeng Liang   +3 more
wiley   +1 more source

Children With 22.Q.11.2 Deletion Syndrome: Sleep‐Disordered Breathing and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Patients with 22q11.2 deletion syndrome (22q11DS) are predisposed to obstructive sleep apnea (OSA) due to an abnormal craniofacial anatomy with pharyngeal hypotonia, retrognathia, micrognathia, and glossoptosis. The aim of the study was to describe the prevalence and management of OSA in a cohort of children with 22q11DS.
Domenico Paolo La Regina   +6 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

The PFI-index according to Aasen for prognosis and course of polytraumatized patients [PDF]

open access: yes, 1988
Baumgartner, I.   +7 more
core  

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

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