BlogDiscover Insightful Articles on Rare Diseases

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• “Usher Syndrome Is Closer Than You Think” — A Conversation with Dr. Juan Carlos Zenteno Ruíz

  Interview | 26. 04. 07

• Williams-Beuren Syndrome: Clinical Features and Genetic Diagnosis Guide

  Rare disease series | 26. 04. 03

• When Should We Consider WES/WGS in Pediatric Patients? — Based on the 2021 ACMG Guidelines

  Genetic test | 26. 04. 02

• 70 Patients Found New Answers Through Reanalysis of Genetic Testing: March 2026

  Genetic test | 26. 03. 30

• Cleidocranial Dysplasia: Why Genetic Testing Matters and When to Consider It

  Insights | 26. 03. 30

• What’s New in CHARGE Syndrome Research: A 2024–2026 Update

  Insights | 26. 03. 27

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