Results 171 to 180 of about 101,493 (254)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Validation and Cultural Adaptation of the Polish Version of the 24-Item Early Onset Scoliosis Questionnaire (EOSQ-24). [PDF]

J Clin Med
Kinel E, Korbel K, Janusz P, Kozinoga M, Politarczyk K, Jezierska K, Kotwicki T.   +6 more
europepmc   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

No foreign language effect in Schizotypy: Evidence from German-English bilinguals. [PDF]

Schizophr Res Cogn
Samuel S, Boeckle M.
europepmc   +1 more source

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak, Tamara Blakemore, Elsie Randall, Meaghan Katrak Harris   +3 more
wiley   +1 more source

Translation and Cultural Adaptation of the Measure Yourself Concerns and Wellbeing (MYCaW) Questionnaire Into German: Protocol for the iSWOP Study.

JMIR Res Protoc
Thronicke A, Schille L, Adie K, Junghanss C, Oei SL, Johnson S, Roos J, Schad F.   +7 more
europepmc   +1 more source

One System, Two Rules: Asymmetrical Coupling of Speech Production and Reading Comprehension in the Trilingual Brain. [PDF]

Brain Sci
Wang Y, Meng Y, Yang Q, Wang R.
europepmc   +1 more source

The Insistence of Blackness and the Persistence of Antiblackness in Ireland

Australian Journal of Social Issues, EarlyView.
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

Adaptation of the Good Spirit, Good Life quality of life tool for remote Indigenous Australians. [PDF]

Qual Life Res
Gilchrist L, Flicker L, Bessarab D, Malay R, Yambo L, Sagigi B, Wapau C, Russell S, Quigley R, Rivers C, Hyde Z, Chaney E, Strivens E, White C, Smith K.   +14 more
europepmc   +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