Results 131 to 140 of about 62,976 (282)

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava   +5 more
wiley   +1 more source

The Introduction of Extended Out‐of‐Home Care (OOHC) Until 21 Years in Australia: A Mapping of Policy, Legislation and Programs in Each Jurisdiction

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT It is increasingly recognised by global research that extending out‐of‐home care (OOHC) until at least 21 years of age is the policy reform most likely to advance improved outcomes for care leavers. In recent years, all eight Australian jurisdictions (States and Territories) have introduced forms of extended care programs.
Philip Mendes   +7 more
wiley   +1 more source

Melphalan plus total body irradiation (MEL-TBI) or cyclophosphamide (MEL-CY) as a conditioning regimen with second autotransplant in responding patients with myeloma is inferior compared to historical controls receiving tandem transplants with melphalan alone

open access: bronze, 2000
K.R. Desikan   +12 more
openalex   +1 more source

Culture, Connection and Care: The Role of Institutional Justice Capital for Enhancing the Wellbeing of Aboriginal and Torres Strait Islander Children in Out‐Of‐Home Care

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Ensuring that Aboriginal and Torres Strait Islander children removed from their families by child protection services remain connected to their kin, Country and culture is a priority to begin to redress the intergenerational trauma and harm caused by colonisation.
Sharynne Hamilton   +9 more
wiley   +1 more source

Evaluation capacity building in a rural Victorian community service organisation: A formative evaluation. [PDF]

open access: yesPLoS One
Kavanagh BE   +6 more
europepmc   +1 more source

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