Results 151 to 160 of about 537,637 (340)

Accommodating patients with obesity in ambulatory care: A clinical environment checklist

open access: yesObesity Science & Practice
Objective Individuals with obesity face unique challenges when visiting healthcare providers, including inadequate equipment. These negative care experiences, often exacerbated by weight stigma, frequently lead to mistrust and reluctance to seek future ...
Wesley Boland   +2 more
doaj   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona   +15 more
wiley   +1 more source

Balancing Service and Safety

open access: yesJACC: Case Reports, 2020
Ahmed N. Khan, MD   +10 more
doaj   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle   +26 more
wiley   +1 more source

Performance of PNAEQ participant’s results for HIV and HCV infection in the First EQA round 2019 [PDF]

open access: yes, 2019
The Portuguese National External Quality Assessment Program (PNAEQ) has been collaborating with Labquality since 2002. One of the first schemes distributed to PNAEQ participants was for HIV laboratory tests, followed by HCV laboratory tests scheme in ...
Cardoso, Ana   +6 more
core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen   +13 more
wiley   +1 more source

Prognostic Significance of 24-Hour Ambulatory Blood Pressure and Holter Monitoring in Patients without Atrial Fibrillation

open access: yesThe Ewha Medical Journal, 2023
Sojeong Park   +4 more
doaj   +1 more source

Invasive Hemodynamic Testing in Ambulatory Left Ventricular Assist Device Patients [PDF]

open access: bronze, 2016
Nina Badoe   +6 more
openalex   +1 more source

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