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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 | 595 |
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April 2025 | May 2025 | June 2025 | July 2025 | August 2025 | September 2025 | October 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 | 28 | 27 | 32 | 27 | 20 | 26 | 11 |
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Enlace a_Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis.htm | 294 |
Clinical Exome Sequencing Enables Congenital Sialidosis.pdf | 267 |
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