Results 211 to 220 of about 43,167 (288)

A missense mutation in the catalytic domain of O-GlcNAc transferase links perturbations in protein O-GlcNAcylation to X-linked intellectual disability. [PDF]

FEBS Lett, 2020
Pravata VM, Gundogdu M, Bartual SG, Ferenbach AT, Stavridis M, Õunap K, Pajusalu S, Žordania R, Wojcik MH, van Aalten DMF.   +9 more
europepmc   +1 more source

X-linked intellectual disability, Najm type [PDF]

, 2020
openaire   +1 more source

Improving Affordability and Accessibility for Socially‐Beneficial Services via Government Incentives

Naval Research Logistics (NRL), EarlyView.
ABSTRACT Many socially‐beneficial services, like dental care, suffer from a dual challenge: Low affordability for citizens and long waiting times due to insufficient provider capacity. We model a government's problem of designing subsidy policies to address this issue.
Xiaoyan Zhao, Venus Lo, Stephen Shum
wiley   +1 more source

X-linked intellectual disability, Armfield type [PDF]

, 2020
openaire   +1 more source

X-Linked Autism Type 9 Caused by a Hemizygote Pathogenic Variant in the TMLHE Gene: Etiological Diagnosis in an Adult Male with Moderate Intellectual Disability

Willem MA Verhoeven,1– 3 Rolph Pfundt,4,5 Udo FH Engelke,6 Leo AJ Kluijtmans,6 Jos IM Egger3– 5 1Department of Psychiatry, Erasmus University Medical Center, Rotterdam, The Netherlands; 2Centre for Consultation and Expertise, Utrecht, The Netherlands ...
Egger JI, Kluijtmans LA, Pfundt R, Verhoeven WM, Engelke UF   +4 more
core  

Righting Past Wrongs Through Restorative Justice: Managerial Motivations for Collaboration

Nonprofit Management and Leadership, EarlyView.
ABSTRACT Nonprofits are crucial to state collaborations as their embedded nature in communities allows them to gain the trust necessary to facilitate change and enhance strengths. As nonprofits collaborate with the public sector to tackle systemic challenges, understanding managerial motivations for collaboration and implications for social change is ...
Kara L. Lawrence, Nina R. Y. Blau, Paige L. Moore   +2 more
wiley   +1 more source

X-linked intellectual disability, Stevenson type [PDF]

, 2020
openaire   +1 more source

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal sequencing of fetuses with abnormalities detected on imaging is expanding globally. Debate continues over whether variants of uncertain significance (VUS) should be reported prenatally, with some recent national position statements opposing this.
A. Gibbs, R. Braham, V. Ramachandran, R. Roberts, C. Willison, T. Ashraf, J. Cobben, A. Gardham, M. Holder‐Espinasse, T. Homfray, S. G. Mehta, D. Tapon, P. Vasudevan, N. J. Chandler   +13 more
wiley   +1 more source

A fusion model integrating magnetic resonance imaging radiomics and deep learning features for predicting alpha-thalassemia X-linked intellectual disability mutation status in isocitrate dehydrogenase-mutant high-grade astrocytoma: a multicenter study. [PDF]

Quant Imaging Med Surg
Liu Z, Xu X, Zhang W, Zhang L, Wen M, Gao J, Yang J, Kan Y, Yang X, Wen Z, Chen S, Cao X.   +11 more
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source