Measurements on the inverse filtered airflow waveform (the ''glottal waveform'') and of
estimated average transglottal pressure and glottal airflow were made from noninvasive …

This report describes the experimental design and initial results of an ongoing clinical
investigation of voice disorders. Its major focus is the development and use of quantitative …

Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics
define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a …

The aim of this study was to assess the effects on vocal function of voice therapy for vocal
nodules. Perceptual and physiological progressive changes were examined during a strictly …

This study examines measures of the glottal airflow waveform, the electroglottographic
signal (EGG), amplitude differences between peaks in the acoustic spectrum, and …

Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

An important clinical issue concerns the efficacy of current voice therapy approaches in
treating voice disorders, such as vocal nodules. Much research focuses on finding reliable …

Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction
and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic …

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased
levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due …

A significant proportion of familial breast cancers cannot be explained by mutations in the
BRCA1 or BRCA2 genes. We applied a strategy to identify predisposition loci for breast …