Results 221 to 230 of about 80,496 (333)

Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNAGln [PDF]

open access: green, 2001
Saara Finnilä   +6 more
openalex   +1 more source

Sensorineural Hearing Loss [PDF]

open access: yesOccupational and Environmental Medicine, 1972
openaire   +1 more source

Generation and Auditory Phenotypic Characterization of Prps1 p.Ala87Thr Mouse Knock‐In Model for Human DFNX1 Deafness

open access: yesClinical Genetics, Volume 108, Issue 5, Page 566-575, November 2025.
Our mouse model with a c.259G>A transition in PRPS1 showed a significant decrease in the number of hair cells and SGN counts at 48 weeks of age and a reduction in Prps1 enzymatic activity in the KI mouse. This model will serve as a valuable tool for developing therapeutic strategies.
Denise Yan   +6 more
wiley   +1 more source

Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders

open access: yesClinical Genetics, Volume 108, Issue 5, Page 495-510, November 2025.
A growing number of genetic variants linking non‐autoimmune diabetes to NDDs across different ages offer key insights about a common background of these phenotypes. These findings call for multidisciplinary approaches to care that integrate metabolic and neurological management in affected children.
Gabriele Di Pasquale   +6 more
wiley   +1 more source

Home - About - Disclaimer - Privacy