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Whole Genome Sequencing for Variant Detection in Charcot-Marie-Tooth Disease: A Cross-sectional Diagnostic Study
GC01 - GC05
Hari Shankar Kumar, Bushra Jarullah, Nidhi Shah, Parth Shah, Udhaya Kotecha
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A Case Report of Cantu Syndrome Highlighting the Importance of Genetic Sequencing in Addition to Radiological Testing
GD01 - GD04
Sriranjani Srinivasan, Revathi Nachiappan, Sivakumar Krishnaswamy Vijayaramanujam, Jayakumar Muthaiyan
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Clinical Features, Molecular Pathogenesis, Diagnosis and Management of Holt-oram Syndrome: A Narrative Review
GE01 - GE05
Harsh Allurwar, Anshika Agrawal, Abhishek Ingole, Bhagyesh Sapkale
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Alagille Syndrome: A Narrative Review of Molecular Pathogenesis, Clinical Manifestations, Diagnosis and Management
GE06 - GE09
Deepanshu Sharma, Imran Ali Khan, Anup Zade, Bhagyesh Sapkale
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