Results 161 to 170 of about 90,531 (222)

Using BossDB Tools to Access, Visualize, and Share Volumetric Neuroscience Data. [PDF]

open access: yesCurr Protoc
Martinez H   +8 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Low‐Level Mosaicism in Tuberous Sclerosis Complex (TSC): Diagnostic and Clinical Implications From Two Novel Cases and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mosaicism is relatively common in Tuberous Sclerosis Complex (TSC) but can be difficult to detect using routine diagnostic tests, particularly when the variant allele frequency (VAF) is low. We describe two cases of mosaic TSC diagnosed using an ultra‐deep sequencing approach in multiple tissues and review the literature about this topic in ...
Irene Ambrosetti   +14 more
wiley   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales   +13 more
wiley   +1 more source

The effect of recall period on reported out-of-pocket health expenditure in Ghana. [PDF]

open access: yesPLoS One
Agorinya IA   +12 more
europepmc   +1 more source

The Cost of the National Disability Insurance Scheme: Australia's Print‐Media Discourse

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper examines the way that Australian newspapers have framed the cost of the National Disability Insurance Scheme (NDIS). Introduced in 2013, the NDIS represented a major change in Australia's disability support policy, moving for the first time to a nationwide universal insurance model.
Meera Chinnappa   +2 more
wiley   +1 more source

Home - About - Disclaimer - Privacy