Results 11 to 20 of about 414 (179)
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort. [PDF]
Clin GenetThis study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Aubert Mucca M +13 more
europepmc +2 more sources
Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology. [PDF]
Clin GenetThe proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Leduc F +5 more
europepmc +2 more sources
Hypoglycemia incidence and behavioural adjustments during free-living unstructured physical activity in adults with type 1 diabetes using AID systems: Results from the RAPPID study. [PDF]
Diabetes Obes MetabAbstract Aims To assess the frequency and management of hypoglycaemia during unstructured physical activity (PA) in adults with type 1 diabetes (T1D) using automated insulin delivery (AID) systems in real‐life settings. Materials and Methods RAPPID is a prospective, multicenter, observational study conducted over 1 month in four French tertiary care ...
Joubert M +6 more
europepmc +2 more sources
Color Research &Application, Volume 48, Issue 5, Page 585-598, September/October 2023., 2023 The main concepts of experience concerning environmental colors arising from the Color Walks. Abstract Designing the colors of a new neighborhood without a color definition of facades is challenging task. While there is a wealth of research on color perception and architectural color design, tools and methods are needed to understand the chromatic ...
Saara Pyykkö
wiley +1 more source
Knowledge and the Picturesque: Encountering Syria in the Eighteenth Century
Journal for Eighteenth-Century Studies, Volume 46, Issue 3, Page 365-383, September 2023., 2023 Abstract This essay looks at the West's engagement with Syria in the eighteenth century, through the writings of travellers and through the history of the publications they brought back from their travels. It argues that these publications provoked a rethinking of various tropes in the description of the Levant, helping to define attitudes to ruins as ...
Alexis Tadié
wiley +1 more source
Orbis Litterarum, Volume 78, Issue 1, Page 31-44, February 2023., 2023 This article explores the relationship between gender and history in Nicolas de Montreux’s historical tragedy La Sophonisbe (1601), specifically how the drama uses the historical female figure of Sophonisbe to negotiate what it means to take part in history.
Anastasia Ladefoged Larn
wiley +1 more source
Journal of the Royal Anthropological Institute, Volume 28, Issue 4, Page 1270-1289, December 2022., 2022 Abstract ‘Insight’ or vipassanā meditation refers to meditative practices employed within Buddhist traditions. But following the secularization of vipassanā in recent decades – that is, its differentiation from Buddhism – orthodox Jewish Israeli meditators frame it as a religiously neutral, therapeutic technique centred on the mundane human body.
Ori Mautner
wiley +1 more source
NACH DEM SCHICKSAL: NAPOLEON BEI HEINE UND TOLSTOJ
German Life and Letters, Volume 75, Issue 3, Page 378-393, July 2022., 2022 ABSTRACT The article uses the contrast between Heinrich Heine and Tolstoyʼs descriptions of Napoleon to explore the paradigm shift from artistic to political figures in nineteenth‐century models of genius. Departing from a brief sketch of five fundamental elements of eighteenth‐century genius aesthetics, it outlines how poetic genius (personified by ...
Jan Niklas Howe
wiley +1 more source
E-Spania, 2019 En 1582 sont publiés à Séville les Algunas obras de Fernando de Herrera. Ce recueil de poèmes, composé de sonnets, chansons, élégies et d’une églogue, est le seul livre poétique organisé et publié de l’auteur. Ce travail essaie de démontrer qu’une partie
João Aidar Filho
doaj +1 more source
Dissection of contiguous gene effects for deletions around ERF on chromosome 19
Human Mutation, Volume 42, Issue 7, Page 811-817, July 2021., 2021 Heterozygous intragenic loss‐of‐function mutations of ERF were previously reported to cause a novel craniosynostosis syndrome. Here we describe six families harboring heterozygous deletions including, or near to, ERF. Based on the severity of associated intellectual disability (ID), we identify different categories of ERF‐associated deletions, with the
Eduardo Calpena +13 more
wiley +1 more source