Results 131 to 140 of about 513,632 (295)

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

METABOLISM OF THE BLOOD INSULIN AND C-PEPTIDE IN ACUTE HEPATITIS

open access: bronze, 1984
Shinobu Tanabashi   +6 more
openalex   +2 more sources

A Transcriptome‐Wide Mendelian Randomization Study in Isolated Human Immune Cells Highlights Risk Genes Involved in Viral Infections and Potential Drug Repurposing Opportunities for Schizophrenia

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Schizophrenia is a neurodevelopmental psychiatric disorder characterized by symptoms of psychosis, thought disorder, and flattened affect. Immune mechanisms are associated with schizophrenia, though the precise nature of this relationship (causal, correlated, consequential) and the mechanisms involved are not fully understood.
David Stacey   +6 more
wiley   +1 more source

Meeting the Needs of Aboriginal and Torres Strait Islander People With Hearing Loss in the Context of the National Disability Insurance Scheme

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Hearing loss is a poignant issue in many Aboriginal and Torres Strait Islander communities and, without sufficient support, it can also contribute to disabling life experiences. The National Disability Insurance Scheme (NDIS) is intended to provide support to eligible people experiencing disability, however, to effectively serve this ...
Hannah Lack   +4 more
wiley   +1 more source

The Intersection of HIV and Migration: Conceptualising Quality of Life Among Asian‐Born Men Who Have Sex With Men Living With HIV in Australia

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT This qualitative study aimed to understand how migration experiences shape wellbeing and quality of life (QoL) for Asian‐born men who have sex with men (MSM) who are living with HIV in Australia, and to identify relevant support needs. Drawing from intersectionality theory, this paper reports findings from semi‐structured interviews with Asian‐
Thomas Norman   +9 more
wiley   +1 more source

Liver/kidney microsome antibody type 1 and hepatitis C virus infection [PDF]

open access: bronze, 1992
Francloise Lunel   +11 more
openalex   +1 more source

Characterization of Neuropsychiatric Conditions in United States Resettled Refugees at a Single Academic Center

open access: yesAnnals of Neurology, EarlyView.
Neuropsychiatric diseases are common among forcibly displaced persons, and a better understanding is needed to improve screening and treatment efforts. We performed a retrospective cross‐sectional study at a single academic center looking at neuropsychiatric diagnoses of United States resettled refugees presenting for their domestic medical examination.
Noor F. Shaik   +2 more
wiley   +1 more source

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