Keyphrases
Non-consanguineous
100%
Consanguineous Family
100%
Renal Ciliopathy
100%
Targeted Resequencing
100%
Genetic Analysis
66%
Renal Insufficiency
66%
Genetic Screening
66%
WDR35
66%
Nephronophthisis-related Ciliopathy
66%
SDG 8
66%
Japanese Females
33%
Female Patients
33%
Sequencing Panel
33%
Next-generation Sequencing Techniques
33%
Polydactyly
33%
Retinitis pigmentosa
33%
Clinical Symptoms
33%
Ciliopathy
33%
Unknown Cause
33%
Pediatric
33%
Screening Approach
33%
Genetic Background
33%
Elders
33%
Renal Failure
33%
Renal Biopsy
33%
Renal Manifestations
33%
Amino Acid Deletion
33%
End-stage Renal Disease
33%
Coloboma
33%
Homozygous Deletion
33%
Screening System
33%
Clinical Aspects
33%
Intellectual Disability
33%
Substrate Binding
33%
Consanguineous Parents
33%
Apical Domain
33%
Splice Site
33%
Homozygous mutation
33%
Compound Heterozygous mutation
33%
Biochemistry, Genetics and Molecular Biology
Genetic Screening
100%
MKKS
100%
Genetics
100%
Intellectual Disability
50%
Retinitis pigmentosa
50%
Next Generation Sequencing
50%
Genetic Background
50%