Results 271 to 280 of about 423,948 (359)

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Direct and Ultrasensitive Bioluminescent Detection of Intact Respiratory Viruses. [PDF]

open access: yesACS Sens
Gräwe A   +7 more
europepmc   +1 more source

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter   +6 more
wiley   +1 more source

From Epidemics to Pandemics: Over a Decade of Strengthening SARInet Laboratory Surveillance and Response for Respiratory Viruses in the Americas. [PDF]

open access: yesJ Infect Dis
Leite JA   +25 more
europepmc   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

Self‐Administered Taste Testing Without Water: Normative Data for the 53‐Item Waterless Empirical Taste Test (WETT)

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background According to the National Health and Nutrition Examination Survey (NHANES), more than 20 million Americans suffer from chronic taste problems. Unfortunately, quantitative testing is rarely performed, self‐reports are inaccurate, and “taste” is often confused with olfaction‐dependent flavors.
Richard L. Doty   +2 more
wiley   +1 more source

Assessment of the prevalence of respiratory pathogens and the level of immunity to respiratory viruses in soldiers and civilian military employees in Poland. [PDF]

open access: yesRespir Res
Nakonieczna A   +8 more
europepmc   +1 more source

Antiviral effects and mechanism of Qi pi pill against influenza viruses

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Qi pi pill presents anti‐influenza effect and inhibits viral replication in vitro by targeting both the viral RNA replication and the release of new viral particles. Furthermore, QPP modulates the production of proinflammatory cytokines induced by influenza infection in host cells.
Chengcheng Zhang   +10 more
wiley   +1 more source

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