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Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1 | 466 |
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November 2024 | December 2024 | January 2025 | February 2025 | March 2025 | April 2025 | May 2025 | |
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Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Tyr370Cys) in NEU1 | 14 | 19 | 11 | 22 | 26 | 28 | 14 |
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Enlace a_Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis.htm | 246 |
Clinical Exome Sequencing Enables Congenital Sialidosis.pdf | 217 |
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