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Showing results for "lung disease preterm"

Reference exome data for a Northern Brazilian population

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.

SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases Program

The accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.

Developmental outcomes following vaccine-proximate febrile seizures in children

To compare the developmental and behavioral outcomes of children experiencing an initial vaccine-proximate (VP) febrile seizure (FS) to those having a non-VP-FS (NVP-FS) and controls who have not had a seizure.

Meta-taxonomic analysis of prokaryotic and eukaryotic gut flora in stool samples from visceral leishmaniasis cases and endemic controls in Bihar State India

We evaluate a meta-taxonomic approach to determine the composition of prokaryotic and eukaryotic gut microflora using sequencing of 16S RNA and 18S rRNA

Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formation

The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation

MicroRNA Signatures in Malignant Pleural Mesothelioma Effusions

These results suggest that the expression of miR-143, miR-210, and miR-200c in PE cells might provide a signature for diagnosing malignant pleural mesothelioma

Silver Russel syndrome in an aboriginal patient from Australia

We report a 4-year-old Australian Aboriginal girl who was born at 32 weeks gestation with features strongly suggestive of Silver-Russell syndrome

A platform for discovery of functional cell-penetrating peptides for efficient multi-cargo intracellular delivery

This report thus establishes a discovery platform for identifying novel, functional CPPs to expand the delivery landscape of druggable intracellular targets for biological therapeutics

Calculation of the age of the first infection for skin sores and scabies in five remote communities in northern Australia

The young age of the first infection with skin sores and scabies reflects the high disease burden in these communities

Meet the Researcher: Hannah Moore

After 20 years at the Institute, Hannah’s career has been a whirlwind of discovery and dedication.