Results 61 to 70 of about 27,492 (256)

Whole Exome Sequencing Identified a Novel Mutation in the LOXHD1 Gene in Consanguineous Iranian Families With Hearing Loss

Journal of Clinical Laboratory Analysis, EarlyView.
Whole exome sequencing in a consanguineous Iranian family with autosomal recessive non‐syndromic hearing loss revealed a novel homozygous frameshift mutation, c.3713dupA (p.Asp1238Glufs*10), in the LOXHD1 gene. This mutation, located in exon 24, results in a premature stop codon and a truncated protein. Sanger sequencing confirmed co‐segregation of the
Solmaz Hassani Fard Katiraei, Milad Gholami, Mohsen Soosanabadi, Mona Entezam, Seyed Alireza Dastgheib   +4 more
wiley   +1 more source

Le centre de conservation et d’étude de Lons-le-Saunier : un modèle sans faille ?

In Situ, 2012
The Worksite of the Center for Conservation and Studies of Lons-le-Saunier (France, Jura) was driven by the aim to be a positive energy building. In order to do so, many solutions have been brought out to regulate the climate in the most passive possible
Élise Cousin
doaj   +1 more source

Experiences of Drainage and Associated Impacts: A Qualitative Study Among Patients With Hidradenitis Suppurativa

JEADV Clinical Practice, EarlyView.
This study provides an in‐depth account of patients' experiences of drainage as a symptom of hidradenitis suppurativa. The HIDE Scale© facilitates incorporation of these insights into clinical practice, supporting person‐centred approaches that enhance clinical assessment, reduce stigma, and strengthen patient–clinician communication.
Stine Thestrup Hansen, Bente Villumsen, Mina Shereen Khaled, Terri Shih, Steven Daveluy, Amit Garg, Susanne de Goeij, Barry M. McGrath, Peter Theut Riis, Kari Zalik, Jennifer L. Hsiao, Camilla G. Frederiksen, Noor F. Goandal, Hans Christian Ring, Joseph Dowsett, Rahul Masson, John R. Ingram, Gregor B. E. Jemec, Joslyn S. Kirby, Linnea Thorlacius, the HIdradenitis SuppuraTiva cORe outcomes set International Collaboration (HiSTORIC)   +20 more
wiley   +1 more source

Planorbidae, Lymnaeidae and Physidae of Ecuador (Mollusca: Basommatophora)

Memorias do Instituto Oswaldo Cruz, 2004
In the course of a trip to Ecuador I had the opportunity of collecting topotypic specimens of the following nominal species of pulmonate molluscs: Biomphalaria cousini Paraense, 1966; Planorbis equatorius Cousin, 1887; P.
W Lobato Paraense
doaj   +1 more source

La coévolution de l’informatique et de son histoire

Interfaces Numériques, 2018
Cet article se propose de montrer de quelle manière l’informatique et l’écriture de son histoire ont évolué conjointement, passant d’une vision internaliste et d’une fascination pour la machine et le matériel, à la prise en compte de « l’ordinateur en ...
Benjamin Thierry, Valérie Schafer
doaj   +1 more source

A Review of Advances in Composite Materials, Structural Optimization, and Machine Learning for Wind Turbine Blades: Challenges and Future Perspectives

Polymer Composites, EarlyView.
Overview of the holistic engineering lifecycle and core research pillars for wind turbine blades. ABSTRACT This paper reviews recent advancements across the lifecycle of wind turbine blades, focusing on three interconnected areas: advanced composites, structural optimization, and machine learning (ML) diagnostics. In materials, we highlight progress in
Kemal Hasirci, Denizhan Yavas, Alaeddin Burak Irez   +2 more
wiley   +1 more source

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations

Journal of Medical Ethics and History of Medicine, 2017
Consanguineous marriage, which is common in many regions in the world,  has absorbed much attention as a causative factor in raising the incidence of genetic diseases.
Narges Nouri, Nayereh Nouri, Samane Tirgar, Elham Soleimani, Vida Yazdani, Farzaneh Zahedi, Bagher Larijani   +6 more
doaj  

A couple of the first cousins born with hypotonia and maternal polyhydramnios

Clinical Case Reports
Key Clinical Message Congenital myotonic dystrophy should be considered in hypotonic infants with polyhydramniotic mothers with a positive history of myotonia.
Mousa Ahmadpour‐kacho, Yadollah Zahed Pasha, Samira Pournajaf   +2 more
doaj   +1 more source

Role of Fiber Sizing in Interfacial Relaxation, Water Uptake and Fatigue Properties of Acrylic‐Matrix Composites

Polymer Composites, EarlyView.
Characterisation of glass fibre reinforced acrylic with acrylic‐tailored or multi‐compatible sizing agents. ABSTRACT Fiber‐reinforced infusible acrylic monomer resins are of interest as recyclable alternatives to epoxy and other thermoset resin composites, but the novelty of these resins causes published studies on acrylic‐matrix composites to often ...
Machar Devine, Duncan Hornsby, Conchúr M. Ó Brádaigh, Dipa Ray   +3 more
wiley   +1 more source

From Wind Turbine Blades to Recycled Glass Fibers: Analytical Modeling and Lab‐Scale Recycling Protocol

Polymer Composites, EarlyView.
Lab‐Scale Composite Dissolution Experiments were used for Prediction of Dissolution Duration. ABSTRACT Glass fiber‐reinforced thermosets are widely used in wind turbine blades. However, recycling these materials remains challenging because thermoset matrices cannot be remelted, and high‐temperature processes degrade glass fibers.
Agathe Navailles, Justine Beauson, Robert Pierce, Tom Andersen Løgstrup, Rajnish Kumar, Yi Chen, Stergios Goutianos   +6 more
wiley   +1 more source