Results 91 to 100 of about 1,469,086 (346)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Efficacy of intervention programme to improve phonological sensitivity skills in Tamil speaking children who are below average scholastic performers

Journal of Child Language Acquisition and Development
Phonological awareness or phonological sensitivity refers to “the knowledge that spoken words are composed of individual sounds and the ability to manipulate them”.
Maria Jayaseelan, Amirtha Varshini M J, Ranjith Rajeswaran   +2 more
doaj   +5 more sources

Multi-domain clinical profile of an individual with cutis laxa syndrome: A case report

The Egyptian Journal of Otolaryngology
The purpose of this paper is to highlight the speech-language and audio-vestibular evaluation of an individual with Cutis Laxa Syndrome (CLS). CLS is a rare genetic disorder that primarily affects the skin, leading to a loose, saggy, and prematurely aged
Murali Subhiksha, Sairaman Thangam Ashokganesh, Prajeesh Thomas, Amulya P. Rao   +3 more
doaj   +1 more source

A clinical case of a patient with subtotal ossification of the cochlea: results of cochlear implantation using neuroimaging methods to control dynamics

Consilium Medicum
Background. Nowadays cochlear implantation (CI) is a globally recognized method of rehabilitation of people with deafness, which allows not only to improve the quality of life of the patient, but also to integrate them into the hearing environment ...
Vladimir V. Dvorianchikov, Vladislav E. Kuzovkov, Dmitrii S. Kliachko, Andrei S. Lilenko, Serafima B. Sugarova, Viktoriia A. Tanaschishina, Denis D. Kalyapin, Polina R. Kharitonova   +7 more
doaj   +1 more source

Working memory training and language outcomes in children with cochlear implants

The Egyptian Journal of Otolaryngology, 2018
Objective The aim of this study is to provide information on whether improvements in language skills might be achieved by improving working memory capacity in cochlear-implanted children.
Azza Samy, Azza Abdel Aziz, Iman El Rouby, Reham Ahmed   +3 more
doaj   +1 more source

Evaluation of in vitro toxicity of common phytochemicals included in weight loss supplements using 1H NMR spectroscopy

FEBS Open Bio, EarlyView.
We investigated the toxicity of 12 active compounds commonly found in herbal weight loss supplements (WLS) using human liver and colon cell models. Epigallocatechin‐3‐gallate was the only compound showing significant toxicity. Metabolic profiling revealed protein degradation, disrupted energy and lipid metabolism suggesting that the inclusion of EGCG ...
Emily C. Davies, Garth L. Maker, Ian F. Musgrave, Samantha Lodge   +3 more
wiley   +1 more source

Lingual and Jaw Kinematic Abnormalities Precede Speech and Swallowing Impairments in ALS [PDF]

, 2018
Bridget J. Perry, Rosemary Martino, Yana Yunusova, Emily K. Plowman, Jordan R. Green   +4 more
openalex   +1 more source

Enzymatic degradation of biopolymers in amorphous and molten states: mechanisms and applications

FEBS Open Bio, EarlyView.
This review explains how polymer morphology and thermal state shape enzymatic degradation pathways, comparing amorphous and molten biopolymer structures. By integrating structure–reactivity principles with insights from thermodynamics and enzyme engineering, it highlights mechanisms that enable efficient polymer breakdown.
Anđela Pustak, Aleksandra Maršavelski
wiley   +1 more source

Polarization‐resolved femtosecond Vis/IR spectroscopy tailored for resolving weak signals in biological samples using minimal sample volume

FEBS Open Bio, EarlyView.
Unique biological samples, such as site‐specific mutant proteins, are available only in limited quantities. Here, we present a polarization‐resolved transient infrared spectroscopy setup with referencing to improve signal‐to‐noise tailored towards tracing small signals. We provide an overview of characterizing the excitation conditions for polarization‐
Clark Zahn, Karsten Heyne
wiley   +1 more source

Converging Evidence From Electrocorticography and BOLD fMRI for a Sharp Functional Boundary in Superior Temporal Gyrus Related to Multisensory Speech Processing [PDF]

, 2018
Müge Özker, Daniel Yoshor, Michael S. Beauchamp   +2 more
openalex   +1 more source