Results 221 to 230 of about 3,427,970 (293)
Increased risk of impulse control symptoms in Parkinson's disease with REM sleep behaviour disorder
, 2014 M.L. Fantini +13 more
openalex +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt +9 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
‘Somewhere We Can Call Home and…Be Normal’: Findings From the Justice Housing Programme Evaluation
Australian Journal of Social Issues, EarlyView.ABSTRACT The relationship between homelessness or unstable housing and reincarceration is well documented. The initial month after a person is released from custody is a period of particular vulnerability, with an increased risk of homelessness and return to prison.
Helen Taylor, Lorana Bartels
wiley +1 more source
Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education
Australian Journal of Social Issues, EarlyView.ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart +2 more
wiley +1 more source