Results 131 to 140 of about 328,351 (329)

Growth Charts for Children With Beckwith–Wiedemann Spectrum

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Beckwith–Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp‐specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp ...
Saskia M. Maas   +11 more
wiley   +1 more source

Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy

open access: yesHuman Mutation, Volume 43, Issue 12, Page 1970-1978, December 2022., 2022
Abstract Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previous study, we identified that COX11 knockdown
Rocio Rius   +15 more
wiley   +1 more source

Posture-Dependent Human 3He Lung Imaging in an Open Access MRI System: Initial Results [PDF]

open access: yesarXiv, 2007
The human lung and its functions are extremely sensitive to orientation and posture, and debate continues as to the role of gravity and the surrounding anatomy in determining lung function and heterogeneity of perfusion and ventilation. However, study of these effects is difficult.
arxiv  

A mouse coccygeal intervertebral disc degeneration model with tail‐looping constructed using a suturing method

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A novel, simple coccygeal intervertebral disc degeneration model, using a suturing method for tail‐looping, without the need for external fixation and complex surgery. The model has high reproducibility and stability and overcomes the disadvantages of the existing animal models of disc degeneration.
Wei Xie   +11 more
wiley   +1 more source

Dual-arm Motion Generation for Repositioning Care based on Deep Predictive Learning with Somatosensory Attention Mechanism [PDF]

open access: yesarXiv
A versatile robot working in a domestic environment based on a deep neural network (DNN) is currently attracting attention. One of the roles expected for domestic robots is caregiving for a human. In particular, we focus on repositioning care because repositioning plays a fundamental role in supporting the health and quality of life of individuals with
arxiv  

In vivo toxic and lethal cardiorespiratory effects of a synthetic quaternary ammonium salt derivative of haloperidol in mice

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Hematoxylin–eosin (H&E) stains of the heart, liver, lung, and kidney show acute toxicity. Abstract Background To investigate the toxicity of N‐n‐butyl haloperidol iodide (F2), a quaternary ammonium salt derivative of haloperidol, in mice for potential therapeutic purposes. Methods The acute median lethal dose (LD50) of F2 was determined using the Bliss
Jilin Liao   +6 more
wiley   +1 more source

Effects of Prone and Supine Sleeping Position on Heart Rate Variability in Preterm Infants [PDF]

open access: bronze, 1999
Kazuya Goto   +6 more
openalex   +1 more source

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