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The clinical and mutational spectrum of Turkish patients with cystinosis
The Turkish Cystinosis Study Group
Research output
:
Contribution to journal
›
Article
›
peer-review
19
Citations (Scopus)
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Keyphrases
Turkish Patients
100%
Mutational Spectrum
100%
Cystinosis
100%
Clinical Spectrum
100%
Gene mutation
50%
Clinical Characteristics
25%
Missense mutation
12%
Pediatric Patients
12%
Severe Disease
12%
Age of Onset
12%
Duplication
12%
Novel mutation
12%
Growth Retardation
12%
Appetite Loss
12%
Polyuria
12%
Splice Site
12%
Multiple Organs
12%
Missense
12%
Growth Loss
12%
Nephropathic Cystinosis
12%
Multicenter Registry
12%
Multi-population
12%
Kidney Outcomes
12%
Allelic Variants
12%
Uncommon mutation
12%
Clinical Progression
12%
Medicine and Dentistry
Cystinosis
100%
Gene Mutation
44%
Diseases
22%
Missense Mutation
11%
Clinical Finding
11%
Pediatrics Patient
11%
Growth Retardation
11%
Polyuria
11%
Loss of Appetite
11%
Biochemistry, Genetics and Molecular Biology
Gene Mutation
100%
Missense
25%
Missense Mutation
25%