Background Wearable sensors (wearables) have been commonly integrated into a wide
variety of commercial products and are increasingly being used to collect and process raw …

… We give special thanks to Dr. Agnes Lau for ultrasound consultation in cases 1 and 2, to
Dr. … Robert MacLean, and Dr. Robert Nickel for clinical participation in cases I, 2, and 6, …

Cystic fibrosis (CF) is caused by mutations in the CF transmembrane conductance regulator
(CFTR) gene but the association between mutation (genotype) and disease presentation (…

In April 2001, the American College of Medical Genetics (ACMG) Cystic Fibrosis (CF) Carrier
Screening Working Group recommended a panel of mutations and variants that should be …

Propionic acidemia is a disorder of branch-chain amino acid and odd-chain fatty acid
metabolism. The clinical features typically begin shortly after birth, with rare cases presenting in …

Growth retardation is a relatively consistent feature of Noonan syndrome but a standardized
growth curve for height has never been calculated. Analysis of retrospective growth data on …

Understanding the impact of peripheral artery disease (PAD) requires broad evaluation of
how functional limitations of PAD affect patients’ perceptions of health-related quality of life (…

… We give special thanks to Dr. William Wood for initial histological examination and tissue
preparation, to Dr. Agnes Lau for ultrasound consultation, and to Dr. Judith G. Hall for many …

The Noonan syndrome (NS) is a multiple congenital anomalies (MCA) syndrome with well‐known
manifestations. Excessive bleeding has been described occasionally. We report on 19 …

A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO
prenatal population, to evaluate the level of interest among eligible patients, the effectiveness …