Results 121 to 130 of about 236,465 (250)

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

Judicial Perspectives on Neurodiversity in Queensland Courts, Tribunals and Commissions: Experiences With Disclosure and Witness Credibility

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Little is known about the impacts of the disclosure, or the non‐disclosure, of medical conditions associated with neurodiversity in the context of court proceedings and hearings before tribunals and commissions. This paper examines the experiences of twenty‐three Queensland Judges, Magistrates, and Tribunal and Commission Members with ...
Danielle Bozin   +5 more
wiley   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva   +18 more
wiley   +1 more source

Oral Communications

open access: yesJournal of Clinical Gastroenterology, 2018
openaire   +2 more sources

UHPLC–MS based metabolomics study of the ErZhi formula on skeletal muscle against osteosarcopenia focusing on energy metabolism

open access: yesAnimal Models and Experimental Medicine, EarlyView.
ErZhi formula (EZF) is composed of Ligustri Lucidi Fructus (LLF) and Ecliptae herba (EH). Ovariectomized (OVX) and sham rats received 12‐week intragastric treatment with EZF, alendronate, and vehicle saline. Gastrocnemius tissues were harvested to systematically evaluate pharmacodynamic changes in skeletal muscle morphology, mitochondrial ...
Yuqing Pang   +7 more
wiley   +1 more source

Nuclear factor of activated T cells as a driver of tumor progression and a target for precision therapy

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Overview illustration of dysregulated NFAT activation coordinating upstream signaling, post‐translational regulation and cancer promoting pathways to induce abnormal gene expression that drives tumor development, progression and immune escape. Abstract The Nuclear Factor of Activated T Cells (NFAT) family comprises closely related transcription factors.
Hira Khan   +6 more
wiley   +1 more source

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