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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 | 310 |
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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 | 9 | 8 | 9 | 9 | 9 | 10 | 0 |
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Enlace a_Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis.htm | 172 |
Clinical Exome Sequencing Enables Congenital Sialidosis.pdf | 159 |
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