Search Results - Flores-Contreras, Elda Ariadna

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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

    Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Ty... by Flores-Contreras, Elda Ariadna, García-Ortiz, José Elías, Robles-Espinoza, Carla Daniela, Zomosa-Signoret, Viviana, Becerra-Solano, Luis Eduardo, Vidaltamayo, Román, Castaneda-García, Carolina, Esparza-García, Eduardo, Molina-Aguilar, Christian, Hernández-Orozco, Angélica Alejandra, Córdova-Fletes, Carlos

    Published in Molecular syndromology
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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

    Clinical Exome Sequencing Enables Congenital Sialidosis Type II Diagnosis in Two Siblings Presenting with Unreported Clinical Features from a Rare Homozygous Sequence Variant p.(Ty... by Flores-Contreras, Elda Ariadna, García-Ortiz, José Elías, Robles-Espinoza, Carla Daniela, Zomosa-Signoret, Viviana, Becerra-Solano, Luis Eduardo, Vidaltamayo, Román, Castaneda-García, Carolina, Esparza-García, Eduardo, Molina-Aguilar, Christian, Hernández-Orozco, Angélica Alejandra, Córdova-Fletes, Carlos

    Published in Molecular syndromology
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