Results 91 to 100 of about 244,526 (128)

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness. [PDF]

open access: yesAm J Hum Genet, 2016
Delmaghani S   +11 more
europepmc   +1 more source

The Prevalence and Clinical Characteristics of <i>MYO3A</i>-Associated Hearing Loss in 15,684 Hearing Loss Patients. [PDF]

open access: yesGenes (Basel)
Maekawa K   +10 more
europepmc   +1 more source

Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients. [PDF]

open access: yesIran J Public Health
Naddafnia H   +3 more
europepmc   +1 more source

EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. [PDF]

open access: yesOrphanet J Rare Dis, 2015
Dahmani M   +7 more
europepmc   +1 more source

Pathophysiology of human hearing loss associated with variants in myosins. [PDF]

open access: yesFront Physiol
Miyoshi T   +3 more
europepmc   +1 more source

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations. [PDF]

open access: yesFront Genet, 2018
Morgan A   +18 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy