Results 191 to 200 of about 19,374 (236)

A Novel Homozygous Nonsense Variant in DCHS1 in a Brazilian Patient With Van Maldergem Syndrome Type 1: Clinical Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Van Maldergem syndrome (VMLDS) is an ultra‐rare autosomal recessive disorder characterized by craniofacial dysmorphism, intellectual disability, hypotonia, skeletal anomalies, and feeding difficulties. It is caused by biallelic variants in DCHS1 or FAT4 genes.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot   +10 more
wiley   +1 more source

Sociodemographic Factors Associated with Hours Worked by Primary Carers in Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Primary caregivers constitute a major unpaid workforce in Australia. The aim of this study was to determine the sociodemographic factors that are associated with carer workloads. Multinomial logistic regression modelling was applied to the nation‐wide Australian Government survey.
Andrew J. Hamilton
wiley   +1 more source

‘Supercharging’ the Economy: Representations of Youth Unemployment and Welfare During COVID‐19

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT The global COVID‐19 pandemic (2020–2022) created profound social policy challenges. In Australia, business closures and rising unemployment prompted a Coalition government to introduce unprecedented income support measures aimed at preventing an economic crisis and softening the financial impacts on citizens.
Sonia Martin, Simone Casey
wiley   +1 more source

Early Endoscopic Repair of Traumatic Skull Base Dural Injuries: Challenging the Dogma of Conservative Management

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson   +9 more
wiley   +1 more source

A self‐retaining mouth prop for intraoral access during periodontal surgery in rat models: A technical note

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A mouth prop designed to mimic the oral cavity of rats was made that provided stable, self‐retaining retraction, thereby facilitating oral surgery on rodents. Compared to conventional methods, it decreased surgical time, operator fatigue, and slippage. Its use led to higher efficiency and fewer complications and it was cost effective to produce.
Saravanan Sampoornam Pape Reddy   +5 more
wiley   +1 more source

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