Results 261 to 270 of about 96,832 (346)
Survival assessment in extremely preterm neonates in a middle-income setting. [PDF]
Rodriguez-Sibaja MJ+7 more
europepmc +1 more source
This study shows increased diagnostic rates and clinical utility of trio‐Whole‐Genome Sequencing (WGS) as a first‐tier test for both critical and non‐critical patients with suspected genetic pediatric‐onset conditions. It also demonstrates the feasibility of implementing a genome‐first diagnostic approach into routine clinical practice in a public ...
Camilla Lucca+26 more
wiley +1 more source
Predicting death and survival without major morbidity for extremely preterm infants using information on hospital admission: a multicenter cohort study. [PDF]
Cao X+13 more
europepmc +1 more source
Expanding the Genetic and Phenotypic Spectrum of POLRMT‐Related Mitochondrial Disease
We identified potentially damaging monoallelic and biallelic POLRMT variants in affected individuals from six unrelated families, thus extending both the clinical and genetic phenotypes of POLRMT‐related mitochondrial disease. ABSTRACT Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity ...
Mahmoud R. Fassad+20 more
wiley +1 more source
Implementation of perinatal mental health screening for parents of infants in a level IV neonatal intensive care unit: A quality improvement initiative. [PDF]
Swenson SA+10 more
europepmc +1 more source
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis+14 more
wiley +1 more source
Emerging pathogens: the underestimated risk of <i>Kodamaea ohmeri</i> infection in hospitals. [PDF]
Wang SJ+4 more
europepmc +1 more source
Abstract Challenged by constrained healthcare resources, hospitals encounter barriers to accommodating patient demand during public health emergencies. Building on a comprehensive literature review of information and knowledge exchange in healthcare, disaster management, and humanitarian operations management, this study explores the influence of ...
Sukrit Pal, Anand Nair
wiley +1 more source