Results 191 to 200 of about 145,362 (297)

A truncated CDC14A retains catalytic structure and phosphatase activity preserving male fertility but causes nonsyndromic deafness. [PDF]

J Biol Chem
Shabbir K, Jackisch G, Belyantseva IA, Imran M, Naz S, Sele C, Murina V, Knecht W, Friedman TB, Logan DT, Imtiaz A.   +10 more
europepmc   +1 more source

Understanding Visitor Path Choice and Enhancing Wayfinding in Museums: A Critical Review of a Century of Research

Curator: The Museum Journal, EarlyView.
ABSTRACT The paths taken by visitors in museums influence what they see, do, learn, and experience. Poorly designed museums can lead to missed goals and opportunities. In this article, I critically review visitor studies published since the 1930s to evaluate explanations for visitor path choice in museums, namely, the location and attractiveness of ...
Gareth Davey
wiley   +1 more source

Characteristics of preoperative electrically evoked middle latency responses and postoperative cochlear implant effects in patients with tinnitus. [PDF]

Head Face Med
Wang B, Guo X, Wei C, Lv W, Gao Z, Wang S, Cao K.   +6 more
europepmc   +1 more source

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study. [PDF]

Front Genet
Liu C, Huang Y, Fu A, Wang Y, Wu J, Zhang Y, Du L, Ding H, Yu L, Li F, Qi Y, Liu Y, Wang X, Zeng Y, Liu L, Xiong Y, Liu Y, Zhao X, Fang L, Jian J, Yin A, You Y.   +21 more
europepmc   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, EarlyView.
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome. [PDF]

Case Rep Endocrinol
Calcaterra V, Lanna M, Ligato E, Dolci A, Laoreti A, Daniele I, Cattaneo E, Lista G, Savasi V, Zuccotti G.   +9 more
europepmc   +1 more source

Improving sign Language recognition system for assisting deaf and dumb people using pathfinder algorithm with representation learning model [PDF]

Nadhem Nemri, Mohammed Yahya Alzahrani, Wided Bouchelligua, Amani A. Alneil   +3 more
openalex   +1 more source

On Schopenhauer's Debt to Spinoza1

European Journal of Philosophy, EarlyView.
Abstract Schopenhauer offers ‘nature is not divine but demonic’ as a direct rebuttal of Spinoza's pantheism, his identification of ‘nature’ with ‘God’. And so, one would think, he ought to have been immune to the ‘Spinozism’ that became, as Heine called it, ‘the unofficial religion’ of the age.
Julian Young
wiley   +1 more source

The view of deaf teachers on the process of producing teaching materials for teaching libras to hearing people in vídeo format

, 2023
Cleidiane Marques da Silva
openalex   +1 more source

Clinical trajectories and medication response in TBC1D24‐related epilepsies

Epilepsia, EarlyView.
Abstract Objective Biallelic variants in TBC1D24 represent a rare cause of epilepsy and neurodevelopmental disorders, including severe developmental and epileptic encephalopathies. Here, we present the first attempt to delineate the longitudinal disease histories and effectiveness of antiseizure medications (ASMs) in TBC1D24‐related disorders.
Ealing Mondragon, Jan H. Magielski, Bintou Bane, JoeyLynn Nolan, Sarah M. Ruggiero, Dallas Armstrong, Susan Arnold, Deepa Sirsi, Ingo Helbig, Jillian L. McKee   +9 more
wiley   +1 more source