Results 71 to 80 of about 24,543 (243)

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans

open access: yesClinical Genetics, EarlyView.
We identified a homozygous frameshift variant in KHDC4 (c.1535_1538del: (p.Lys512Argfs*8) in a consanguineous family with syndromic Retinitis Pigmentosa. Functional characterization shows aberrant protein mislocalisation from nuclear speckles to a diffuse pattern.
Asodu Sandeep Sarma   +9 more
wiley   +1 more source

Modelling the Effects of Immigration on Regional Economic Performance and the Wage Distribution: A CGE Analysis of Three EU Regions [PDF]

open access: yes
The paper uses a regional Computable General Equilibrium (CGE) model to analyse the effects of immigration on three small remote EU regions located within Scotland, Greece and Latvia. Two migration scenarios are assessed.
Balamou, Eudokia   +3 more
core  

Müllerian Duct Aplasia in a Girl With SMARCB1‐Related Coffin–Siris Syndrome: A Rare Co‐Occurring Anomaly

open access: yesClinical Genetics, EarlyView.
Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund   +5 more
wiley   +1 more source

The cost of fiscal tightening in Poland on the road to the Euro: does the labour market matter? (CGE model simulations) [PDF]

open access: yes
The paper presents an assessment of macroeconomic and also some selected structural consequences of the proposed fiscal consolidation necessary for Poland to fulfil the Maastricht fiscal criteria.
Żółkiewski, Zbigniew   +2 more
core  

Compound‐Heterozygous PLVAP Missense Variants Associated With Attenuated Protein‐Losing Enteropathy (DIAR10)

open access: yesClinical Genetics, EarlyView.
A three‐year‐old girl with attenuated protein‐losing enteropathy carried compound‐heterozygous missense PLVAP variants inherited from unaffected non‐consanguineous parents. The case supports residual PLVAP function in missense‐associated DIAR10 and expands its genetic and clinical spectrum.
Jana Zídková   +8 more
wiley   +1 more source

A global CGE model at the NUTS 1 level for trade policy evaluation [PDF]

open access: yes
This paper aims at building a global CGE trade model at NUTS 1 level (subnational level) for the EU15 regions. The focus is on the production side.
Gabriele Standardi
core  

General equilibrium effects of technical non‐tariff measures: evidence from bilateral trade cost estimates

open access: yesEconomica, EarlyView.
Abstract We estimate the trade and income effects of regulatory developments concerning standard‐like non‐tariff measures (NTMs) over 2012–2017 combining structural gravity estimates and general equilibrium projections. The trade cost effects of regulatory changes vary at the country‐pair level and across sectors.
Octavio Fernández‐Amador   +2 more
wiley   +1 more source

Transportation Costs, Increasing Returns and Regional Growth: An Interregional CGE Analysis [PDF]

open access: yes
The purpose of this paper was threefold. First, we presented a flexible analytical framework, based on sound and consistent economic theory and data, in order to assess the likely state/sectoral/income effects of policy changes in Brazil.
Eduardo Haddad, Geoffrey Hewings
core  

The road to hell is paved with good intentions: A review and research agenda on rebound effects and win–win strategies

open access: yesInternational Journal of Management Reviews, EarlyView.
Abstract Rebound effects describe how efficiency improvements in energy or resource use can increase demand, thereby partially or fully offsetting expected environmental savings. This dynamic complicates win–win strategies that aim to improve environmental and financial performance.
Jozef Cossey, Aurélien Acquier
wiley   +1 more source

Income Distribution and Labour Movement in China after WTO Membership: A CGE Analysis [PDF]

open access: yes
applied CGE modelling, China, WTO, labour movement ...
Mayes, David, Wang, Jiao, Wan, Guanghua
core  

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