Results 21 to 30 of about 122,071 (242)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello   +10 more
wiley   +1 more source

Issue-Choice, Messaging, and Organizing: A Sociological Approach to Three Ballot Measures in Colorado in 2006

open access: yesTransatlantica, 2011
This article examines the coincidence of apparently contradictory ballot measure results in Colorado in 2006 as a case study of the significance of this form of direct democracy for progressive social movements: are ballot measures an opportunity or a ...
Guillaume Marche
doaj   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi   +20 more
wiley   +1 more source

A Prospection‐Led Archaeological Investigation of a Picenian and Roman Necropolis in Corinaldo (Marche, Italy)

open access: yesArchaeological Prospection, EarlyView.
ABSTRACT This paper presents the results of an integrated archaeological and geophysical investigation conducted between 2018 and 2024 at the newly discovered Picenian and Roman necropolis of Contrada Nevola (Corinaldo, Marche, Central Italy), identified in the framework of development‐led archaeology. The research strategy combined aerial photography,
Federica Boschi
wiley   +1 more source

Expert Perspectives: Defining and Managing Progressive Pulmonary Fibrosis in Systemic Sclerosis

open access: yesArthritis &Rheumatology, EarlyView.
Systemic sclerosis–associated interstitial lung disease (SSc‐ILD) is one of the leading causes of morbidity and mortality in SSc, affecting up to three‐quarters of patients. The disease course is highly heterogeneous, ranging from indolent, nonprogressive forms to rapidly progressive pulmonary fibrosis (PPF).
Devis Benfaremo   +7 more
wiley   +1 more source

L' anthropologie sociale de Parcours de la reconnaissance, vecteur de la critique ricoeurienne de la société de marché

open access: yesÉtudes Ricoeuriennes / Ricoeur Studies
Dans Parcours de la reconnaissance, Ricoeur développe, en s'appuyant sur la critique de Hobbes par Hegel actualisée par Honneth, une critique de la société de marché.
Pierre-Olivier Monteil
doaj   +1 more source

Nudging ESG Investments via Digital Financial Advising: Evidence From an Investment Game Experiment

open access: yesBusiness Strategy and the Environment, EarlyView.
ABSTRACT The influence of financial advisors on retail investors' sustainable investment choices remains surprisingly underexplored, despite their potential to shape investment behavior. This study uses an experimental design to examine how sustainability‐related information provided by a digital (simulated) financial advisor affects individual demand ...
Caterina Lucarelli   +2 more
wiley   +1 more source

Légitimité soluble dans le marché ? L'exemple des prix littéraires

open access: yesBelphégor, 2019
Cet article vise à montrer comment les prix littéraires, ces instances de prescription et de consécration, sont au cœur de logiques à la fois culturelles et marchandes, littéraires et économiques.
Sylvie Ducas
doaj   +1 more source

Climate Stress Testing on European SME Securitised Loans Under Climate Mitigation Scenarios

open access: yesBusiness Strategy and the Environment, EarlyView.
ABSTRACT Assessing the future impact of climate risks on the probability of default (PD) of small and medium enterprises (SMEs) is challenging due to limited disclosure, policy uncertainty and exposure to physical risks. This paper addresses this gap by integrating macroeconomic variables from the Network for Greening the Financial System (NGFS ...
Luca Zanin, Raffaella Calabrese
wiley   +1 more source

Des bœufs pour les charrettes ? Les acteurs du marché des bovins dans un bourg de la Nouvelle-Castille moderne

open access: yesE-Spania, 2019
Les habitants d’Almodóvar del Pinar, en Nouvelle-Castille, ont développé dès la fin du XVIe siècle, une importante activité de transport par charrettes.
Patrice Poujade
doaj   +1 more source

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