|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
UNIPROT |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran.
|
28451532 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.
|
28472130 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the UK National Health Service.
|
27160483 |
2017 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.
|
26791358 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
|
27068579 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
|
27610647 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
|
26226137 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
|
27460420 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
|
27460420 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
|
27583663 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.
|
27729122 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
|
27957503 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss.
|
27610647 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
|
27344577 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome.
|
27583663 |
2016 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.
|
25575603 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
|
25788563 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Electroretinogram assessment of children with sensorineural hearing loss: implications for screening.
|
26486028 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
|
26338283 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
|
26561413 |
2015 |
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
0.930 |
CausalMutation
|
disease |
CLINVAR |
Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
|
26445815 |
2015 |