Results 131 to 140 of about 213,745 (334)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani   +17 more
wiley   +1 more source

Predictable sequential structure augments auditory sensitivity at threshold

open access: yesiScience
Summary: Human hearing is highly sensitive and allows us to detect acoustic events at low levels. However, sensitivity is not only a function of the integrity of cochlear transduction mechanisms but is also constrained by central processes such as ...
Nadège Marin   +7 more
doaj   +1 more source

Association between Anemia and Auditory Threshold Shifts in the US Population: National Health and Nutrition Examination Survey. [PDF]

open access: yesInt J Environ Res Public Health, 2020
Shih JH   +7 more
europepmc   +1 more source

Effect of Umbilical Cord Ferritin Level on Auditory Brainstem Response Threshold in Newborns.

open access: green, 2020
Soumyajit Das   +4 more
openalex   +2 more sources

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra   +5 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy