Results 151 to 160 of about 13,282 (244)

Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. [PDF]

open access: bronze, 1991
Serge Amselem   +7 more
openalex   +1 more source

The history of anatomical engagement

open access: yesAnatomical Sciences Education, EarlyView.
Abstract The public's fascination with anatomy has evolved over time and progressed from avoidance of the tainted yet saintly corpse, to their fascination with cabinets of curiosities. The current narrative review explores public engagement (PE), from its potential origins as cave paintings, to the rise of the disciplinarity of anatomy.
Quenton Wessels, Adam M. Taylor
wiley   +1 more source

Genetic predisposition to porto‐sinusoidal vascular disorder: A functional genomic‐based, multigenerational family study

open access: yesHepatology, EarlyView., 2022
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan   +19 more
wiley   +1 more source

Survey sabotage: Insights into reducing the risk of fraudulent responses in online surveys

open access: yesAnatomical Sciences Education, EarlyView.
Abstract Validity is a key element of many forms of research—particularly surveys, which are often used in health professions education research. A survey must accurately measure what it is intended to measure to be considered valid. This is becoming increasingly difficult in the age of artificial intelligence (AI), where “bots” (short for robots) are ...
James Bonnamy   +3 more
wiley   +1 more source

Reflexive thematic analysis and men's embodiment following injury or illness: A worked example

open access: yesAnatomical Sciences Education, EarlyView.
Abstract Reflexive thematic analysis (reflexive TA) originated within psychology and the social sciences and has become an increasingly popular qualitative analytic method across a range of disciplines. In this article, we offer a brief methodological guide for researchers hoping to use the method, suitable for beginners through to those experienced in
Gareth Terry, Nikki Hayfield
wiley   +1 more source

Double gene mutations of LRSAM1 and REEP1 and a new REEP1 mutation site found in a patient with amyotrophic lateral sclerosis with subjective paresthesia: A case report

open access: yesIbrain, EarlyView., 2023
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by selective degeneration of upper and lower motor neurons. Leucine‐rich repeats and sterility α mutations in motif 1 (LRSAM1) has been proven to be involved in the pathogenesis of ALS.
Ji‐Yao Qin   +6 more
wiley   +1 more source

Nonsense mutations at Arg-1947 in two cases of familial neurofibromatosis type 1 in Japanese [PDF]

open access: green, 1994
Takahiko Horiuchi   +6 more
openalex   +1 more source

ChatGPT for complex text evaluation tasks

open access: yesJournal of the Association for Information Science and Technology, Volume 76, Issue 4, Page 645-648, April 2025.
Abstract ChatGPT and other large language models (LLMs) have been successful at natural and computer language processing tasks with varying degrees of complexity. This brief communication summarizes the lessons learned from a series of investigations into its use for the complex text analysis task of research quality evaluation.
Mike Thelwall
wiley   +1 more source

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