Results 241 to 250 of about 9,253,090 (290)

Exome Sequencing Uncovers Phenotypic and Genotypic Heterogeneity in 196 Indian Families Evaluated for Autoinflammatory Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autoinflammatory disorders (AIDs) are a clinically heterogeneous group of inborn errors of immunity primarily caused by dysregulation in the innate immune system. Clinical diagnosis is often challenging due to clinical heterogeneity and the overlapping phenotypes with other inborn errors of immunity and monogenic conditions that mimic AIDs ...
Vaishnavi Ashok Badiger   +28 more
wiley   +1 more source

[Physician's role].

open access: yesTidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 1992
openaire   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

On the Prospects for African Philosophy in Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

General Practice Utilisation for Adults With Neurological Disability Who Are National Disability Insurance Scheme Participants in Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Most adults with neurological disability rely on general practitioners for managing and preventing health complications. This study analysed patterns of general practice service utilisation among National Disability Insurance Scheme (NDIS) participants with neurological disability and compared these with people who are not NDIS participants ...
Stacey Oliver   +8 more
wiley   +1 more source

Antibody-drug conjugates beyond HER2: Translating evidence into practice for HR+ HER2-negative and triple-negative metastatic breast cancer. [PDF]

open access: yesBreast
Gouveia MC   +9 more
europepmc   +1 more source

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