Results 171 to 180 of about 315,529 (311)

Characteristics Associated With Persistent Long COVID Symptoms in Healthcare Personnel Infected With SARS‐CoV‐2 Between August 2022 and May 2024: A Multicenter Cohort Analysis of US Healthcare Personnel

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Long COVID affects a significant proportion of COVID‐19 survivors. This study examined persistent Long COVID symptoms among healthcare personnel (HCP) and evaluated associations with vaccination, prior SARS‐CoV‐2 infection, underlying health conditions, and demographics.
Eric Kontowicz   +13 more
wiley   +1 more source

Clinical and Molecular Characterization of 46 Patients With Beckwith–Wiedemann Spectrum and Uniparental Disomy of 11p15

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder characterized by its main clinical features macrosomia, macroglossia, and abdominal wall defects. BWSp is caused by (epi)genetic chromosome 11p15 alterations with approximately 20%–27% of patients exhibiting mosaic paternal uniparental disomy of chromosome 11p15 (pUPD11p15).
Saskia M. Maas   +9 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik   +10 more
wiley   +1 more source

Caregiver Contributions to Self-Care in Parkinson's Disease: A Qualitative Descriptive Study. [PDF]

open access: yesJ Nurs Scholarsh
Monica P   +10 more
europepmc   +1 more source

From Cognitive Processing to Daily Functioning: Language, Visuomotor Integration, and Adaptive Behavior in Children With Coffin‐Siris Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Studying Mendelian neurodevelopmental disorders (NDDs) from a bottom‐up perspective, in which neurocognitive functioning is conceptualized as a mediator between genotype and behavioral phenotype, may facilitate early identification of syndrome‐specific vulnerabilities.
Myrthe R. M. Kamphof   +3 more
wiley   +1 more source

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