[PDF][PDF] A dyadic approach to the delineation of diagnostic entities in clinical genomics

LG Biesecker, MP Adam, FS Alkuraya… - The American Journal of …, 2021 - cell.com
The delineation of disease entities is complex, yet recent advances in the molecular
characterization of diseases provide opportunities to designate diseases in a biologically …

Rubinstein‐Taybi syndrome medical guidelines

S Wiley, S Swayne, JH Rubinstein… - American Journal of …, 2003 - Wiley Online Library
Children and adults with Rubinstein‐Taybi Syndrome have specific medical conditions that
occur with greater frequency than the general population. Based on the available …

[HTML][HTML] Self-assembly of protein-polymer conjugates for drug delivery

CA Stevens, K Kaur, HA Klok - Advanced Drug Delivery Reviews, 2021 - Elsevier
Protein-polymer conjugates are a class of molecules that combine the stability of polymers
with the diversity, specificity, and functionality of biomolecules. These bioconjugates can …

A new system, the LipiFlow, for the treatment of meibomian gland dysfunction

SS Lane, HB DuBiner, RJ Epstein, PH Ernest… - Cornea, 2012 - journals.lww.com
Purpose To evaluate the safety and effectiveness of the LipiFlow System compared to the
iHeat Warm Compress (WC) for adults with meibomian gland dysfunction (MGD). Methods …

Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium

LA Farrer, KM Grundfast, J Amos, KS Arnos… - American journal of …, 1992 - ncbi.nlm.nih.gov
Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the
distal portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained …

[PDF][PDF] Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency

AF Rope, K Wang, R Evjenth, J Xing… - The American Journal of …, 2011 - cell.com
We have identified two families with a previously undescribed lethal X-linked disorder of
infancy; the disorder comprises a distinct combination of an aged appearance, craniofacial …

Overview of performance, application, and analysis of rotating detonation engine technologies

BA Rankin, ML Fotia, AG Naples, CA Stevens… - Journal of Propulsion …, 2017 - arc.aiaa.org
Recent accomplishments related to the performance, application, and analysis of rotating
detonation engine technologies are discussed. The pioneering development of optically …

A pilot study evaluating the effect of mindfulness-based stress reduction on psychological status, physical status, salivary cortisol, and interleukin-6 among advanced …

CA Lengacher, KE Kip, M Barta… - Journal of Holistic …, 2012 - journals.sagepub.com
Purpose: To investigate whether a mindfulness-based stress reduction program for cancer
(MBSR-C) improved psychological and physical symptoms, quality of life (QOL), and stress …

Enhanced superoxide production by alveolar macrophages and air-space cells, airway inflammation, and alveolar macrophage density changes after segmental …

WJ Calhoun, HE Reed, DR Moest, CA Stevens - Am Rev Respir Dis, 1992 - atsjournals.org
Aerosol antigen challenge is a useful model for studying allergen-driven airway
inflammation. Nonetheless, certain limitations exist with inhalational challenges. First, the …

Reward circuit connectivity relates to delay discounting in children with attention-deficit/hyperactivity disorder

TGC Dias, VB Wilson, DR Bathula, SP Iyer… - European …, 2013 - Elsevier
Attention-deficit/hyperactivity disorder (ADHD) is a prevalent psychiatric disorder that has
poor long-term outcomes and remains a major public health concern. Recent theories have …