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6 results on '"Bertok, Sara"'

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1. Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

2. Clinical and Genetic Characteristics of a Patient with Phosphoribosyl Pyrophosphate Synthetase 1 Deficiency and a Systematic Literature Review

3. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

6. Genetic Heterogeneity in Italian Families with IgA Nephropathy: Suggestive Linkage for Two Novel IgA Nephropathy Loci

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