Results 181 to 190 of about 10,510 (302)

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra   +5 more
wiley   +1 more source

Trauma‐Informed Practice in Welfare‐to‐Work and Employment Services: A Scoping Review

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT There is increasing recognition within welfare services, including employment services, that many participants may have histories of trauma. Research suggests that experiences of trauma not only impact individuals' psychosocial health but also vocational elements such as job performance, employability, career progression, and financial ...
Emily Corbett   +3 more
wiley   +1 more source

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