Alport syndrome (AS) is a genetically rare, heterogeneous and hereditary pathology associated with germline mutations in collagen type IV genes (COL4A3, COL4A4 and COL4A5). Characterized by progressive loss of renal ...

The genetic basis for combined pituitary hormone deficiency (CPHD) is complex, involving 30 genes in a variety of syndromic and nonsyndromic presentations. Molecular diagnosis of this disorder is valuable for predicting ...

As bactérias pertencentes ao grupo do Bacillus cereus são importantes para indústrias processadoras de leite e produtos lácteos devido à capacidade de sobrevivência aos tratamentos térmicos utilizados durante os processamentos, ...

Objectives: To describe the frequency of genetic variants associated with monogenic diseases with inborn errors of immunity in children who have had localized adverse events after BCG vaccination. Patients and Methods: ...

In recent years, MALDI-TOF Mass Spectrometry (MS) method has emerged as a promising and a reliable tool for bacteria identification. In this study we compared Bruker MALDI-TOF MS and conventional phenotypic methods to ...

Analysing a multiple sequece alignment at the residue level, apart from the conserved positions, there are other patterns that are also indicative of functional importance and reflect functional divergence within a ...

Analysing a multiple sequece alignment at the residue level, apart from the conserved positions, there are other patterns that are also indicative of functional importance and reflect functional divergence within a homologous ...