Results 121 to 130 of about 338,619 (303)

The role of platelet-rich plasma in biomedicine: A comprehensive overview

open access: yesiScience
Summary: Biomedicine has seen significant advancements in the 21st century, with platelet-rich plasma (PRP) playing a crucial role in clinical practice.
Zhixin Zhang   +11 more
doaj   +1 more source

Implementation of Youth Empowerment Services (YES) juvenile justice diversion program: A first‐person account

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract In Santa Barbara County, the Youth Empowerment Services (YES) Program brought together several government and community‐based organizations, as well as a university‐based evaluation team, to provide pre‐adjudication diversion to youth ages 12 to 17.
Angela Pollard   +7 more
wiley   +1 more source

Using photovoice to understand community perceptions of firearm risks and protective factors among Asian Americans

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract This study used photovoice methodology to explore Asian Americans' perspectives on the root causes and protective factors of firearm violence in their communities. Photovoice provided a participatory platform for community members to document lived experiences and identify priorities for change.
Tsu‐Yin Wu   +4 more
wiley   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden   +2 more
wiley   +1 more source

Remote Language Assessment in School‐Age Children With Phelan–McDermid Syndrome and Genotype–Phenotype Correlation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT People with Phelan–McDermid syndrome (PMS) have reduced speech and language abilities, yet little research has profiled the communication abilities in this population. The purpose of this study was threefold: identifying the language and communication profiles of school‐aged children with PMS, identifying genetic contributions to language and ...
Sarah Quadri‐Valverde   +12 more
wiley   +1 more source

Hearing Impairment and Cognitive Function: Mediating Role of Social Isolation and Depression

open access: yesAmerican Journal of Alzheimer's Disease and Other Dementias
Objectives To examine the relationship between hearing impairment and cognitive function and the mediating role of social isolation and depression. Methods: Data came from the 2018 China Health and Retirement Longitudinal Study wave. A self-reported item,
Fan Wu PhD, Chenxi Zhou PhD
doaj   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken   +4 more
wiley   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi   +11 more
wiley   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li   +25 more
wiley   +1 more source

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