Results 161 to 170 of about 35,997 (315)
ABSTRACT Vascular Ehlers–Danlos syndrome (vEDS) is a hereditary connective tissue disorder caused by heterozygous pathogenic variants in COL3A1. European studies have shown that celiprolol may reduce the risk of life‐threatening vascular events, but outcomes in non‐European populations and the therapy's psychological impact remain unclear. We conducted
Megumi Furuhata‐Yoshimura +2 more
wiley +1 more source
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
The detection of episodic memory in others biases social choice. [PDF]
Ciaramelli E +3 more
europepmc +1 more source
The Insistence of Blackness and the Persistence of Antiblackness in Ireland
ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley +1 more source
Narrator Myopia in “Goodwood Comes Back”
In “Goodwood Comes Back,” Warren creates an emotionally myopic narrator whose inability to see Goodwood for who he really is ironically points to the fact that, however short-lived, Goodwood’s personal comeback has been as triumphant as his foray into ...
McCarron, Bill, Knoke, Paul
core
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington +2 more
wiley +1 more source
Il Combattimento - narrator and musicians
Violinist Margaret Bowling, violoncellist Anne Wilkinson, harpsichordist Walter Keller, violist Diane Rhodes, violinist Robert Riggs, and narrator Joseph German in UNM Opera Workshop's production of Monteverdi's Il Combattimento di Tancredi e ...
core
The Lived Experience of Delirium in a Critically Ill Child: A Narrative Study. [PDF]
Stenkjaer RL +4 more
europepmc +1 more source

