Results 211 to 220 of about 97,979 (304)

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

Clinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley, Rae Brager, Hannah Geddie, Vicky Breakey, Rebecca Hough, Dimitrios J. Stavropoulos, Vanda McNiven   +6 more
wiley   +1 more source

Early-warning predictive model of retinal detachment in high myopia: a comprehensive construction and validation study. [PDF]

BMC Ophthalmol
Wang B, Zhao D, Li R, Wang Q, Jiang F, Yang J, Shi B.   +6 more
europepmc   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Application of directional customized corneal relaxing incision in EVO ICL implantation: high myopia with low astigmatism. [PDF]

BMC Ophthalmol
Xu G, Cheng M, Liu Q, Li M, Tang S, Li B, Jiang Y, Lei Y, Lin IC, Mao Z, Chen X, Wang X.   +11 more
europepmc   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Differentiation Between Moderate Versus High Myopia: The 2-Continent Eye Study. [PDF]

Ophthalmol Sci
Jonas JB, Jonas RA, Bikbov MM, Kazakbaeva GM, Iakupova EM, Wang YX, Nangia V, Panda-Jonas S.   +7 more
europepmc   +1 more source

Speculation in the United Kingdom, 1785‒2019

The Economic History Review, EarlyView.
Abstract Speculation has long been thought to have significant economic effects, but it is difficult to measure, making it challenging to examine these effects empirically. In this paper we measure speculation in the United Kingdom since 1785 by using business and financial reporting in The Times newspaper.
William Quinn, John D. Turner, Clive B. Walker   +2 more
wiley   +1 more source

Perfluorodecalin and Viscoelastic-Assisted Internal Limiting Membrane Flap Technique for High Myopia Macular Hole Retinal Detachment. [PDF]

Clin Ophthalmol
He J, Yan L, Wang S.
europepmc   +1 more source

Assessing the Credibility of ChatGPT on Temporomandibular Disorders

European Journal of Dental Education, EarlyView.
ABSTRACT Introduction Large Language Models such as ChatGPT are increasingly used in dental education; however, their credibility in clinical contexts remains uncertain. This study is aimed to analyse the credibility and efficacy of responses given by ChatGPT about temporomandibular disorders among dentists and dental students.
Hilal Yilanci, Amr Anjary, Mohammed Adleh   +2 more
wiley   +1 more source

Organizational agility and relational trust: Unraveling the dynamics of pioneering orientation

European Management Review, EarlyView.
Abstract In a context of rapidly evolving business landscapes, this study delves into the intricate factors shaping pioneering orientation, focusing particularly on organizational agility in operational and market dimensions. The research, conducted with 302 companies in Peru's World Heritage Cities, utilizes structural equation modeling to analyze ...
Bernardo De la Gala‐Velásquez, Pedro Manuel García‐Villaverde, María José Ruiz‐Ortega, Américo Hurtado‐Palomino   +3 more
wiley   +1 more source