Results 221 to 230 of about 616,798 (355)

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Clean Cut (adaptive, multimodal surgical infection prevention programme) for low‐resource settings: a prospective quality improvement study

open access: yesBJS (British Journal of Surgery), EarlyView., 2020
Clean Cut is a multimodal, adaptive, checklist‐based infection prevention programme designed to improve compliance with six critical perioperative infection prevention practices. After introducing the programme at five hospitals in Ethiopia, compliance with critical infection prevention standards significantly improved and the relative risk of ...
J. A. Forrester   +16 more
wiley   +1 more source

Regional myocardial blood flow after sudden aortic constriction in awake dogs.

open access: bronze, 1978
Abe Walston   +3 more
openalex   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi   +5 more
wiley   +1 more source

Management of Normothermic Regional Perfusion Performance in Uncontrolled Versus Controlled Donation After Circulatory Death: A Multi-Center Investigation. [PDF]

open access: yesJ Clin Med
Lazzeri C   +8 more
europepmc   +1 more source

Treg Cells Modulate Neuroinflammation and Behavioral Deficits in Autism: Evidence From MR‐Based Genetic Analyses and Experimental Models

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental condition that is increasingly linked to immune dysfunction and neuroinflammation. Regulatory T cells (Tregs), which are crucial in maintaining immune homeostasis, have been implicated in the pathogenesis of ASD.
Zuqing Nie   +9 more
wiley   +1 more source

O2C-Based Evaluation of Microperfusion During Dialysis Fistula Creation. [PDF]

open access: yesJ Clin Med
Schmoll L   +9 more
europepmc   +1 more source

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