American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Assessment of noninvasive parameters prior to diagnosis of pulmonary hypertension in patients with fibrotic interstitial lung disease. [PDF]
ERJ Open ResHerbert S +14 more
europepmc +1 more source
The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo
Australian Journal of Social Issues, EarlyView.ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton +2 more
wiley +1 more source
Quantifying glare phenomena in patients with different intraocular lenses using a standard and modified clinical straylight meter. [PDF]
J Cataract Refract SurgNaujokaitis T +5 more
europepmc +1 more source
Quantifying the Sites of Government, Commercial, and Personal Systems‐Perpetrated Financial Abuse
Australian Journal of Social Issues, EarlyView.ABSTRACT This study explores the institutional systems through which post‐separation financial abuse is perpetrated. While existing measures seek to quantify the harms experienced by women post‐separation, this study draws on financial, welfare and legal service casefiles to identify where such harms occur. Drawing on 76 de‐identified Victorian service
Kay Cook +3 more
wiley +1 more source
Treatment approaches to patients with multiple sclerosis and coexisting psoriasis - A longitudinal multicenter observational cohort study. [PDF]
NeurotherapeuticsBrummer T +12 more
europepmc +1 more source
La suite des fées à la mode , par madame la comtesse d'Aulnoy
Collection : Le cabinet des fées ; ou Collection choisie des contes des fées et autres contes merveilleux ; 4Contient une table des matièresAvec mode ...
Aulnoy, Marie-Catherine Le Jumel de Barneville (1650-1705 ; baronne d'). Auteur du texte
core
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background The indication for nasal irrigation with corticosteroids after sinus surgery in patients with Chronic Rhinosinusitis with Nasal Polyps (CRSwNP) is well established, as surgery facilitates distribution throughout the sinonasal cavity.
Juliana Sant'Ana +5 more
wiley +1 more source
Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho +9 more
wiley +1 more source