Results 131 to 140 of about 1,188,756 (285)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah +6 more
wiley +1 more source
3D virtual histology of rodent and primate cochleae with multi-scale phase-contrast X-ray tomography
Scientific ReportsMulti-scale X-ray phase contrast tomography (XPCT) enables three-dimensional (3D), non-destructive imaging of intact small animal cochlea and apical cochlear turns. Here we report on post-mortem imaging of excised non-human primate and rodent cochleae at
Jannis J. Schaeper +11 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone +13 more
wiley +1 more source
Defective Tmprss3-Associated Hair Cell Degeneration in Inner Ear Organoids
Stem Cell Reports, 2019 Summary: Mutations in the gene encoding the type II transmembrane protease 3 (TMPRSS3) cause human hearing loss, although the underlying mechanisms that result in TMPRSS3-related hearing loss are still unclear.
Pei-Ciao Tang +8 more
doaj
Australian Journal of Social Issues, EarlyView.ABSTRACT There is a need to better understand the physical and mental health of mothers of Aboriginal children who enter out‐of‐home care to prevent removals. Evidence suggests that families involved in child protection systems often experience significant needs that may culminate in child removals.
Fernando Lima +11 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan +77 more
wiley +1 more source
Sensory Neuron Diversity in the Inner Ear Is Shaped by Activity
Cell, 2018 B. R. Shrestha +4 more
semanticscholar +1 more source
Cerebral Small Vessel Disease in Older Adults With Olfactory Dysfunction
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Poor vascular health has been associated with age‐related declines in sensory functions, including olfaction. The current study was designed to test the hypothesis that cerebral small vessel disease underlies poor olfactory function due to structural declines in brain regions that support olfaction.
Mark A. Eckert +3 more
wiley +1 more source