Visualitza VHIR - Articles científics per autor "Padilla Sirera, Natàlia"
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A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Porras, Luz-Marina; Moles Fernandez, Alejandro; Santamariña, Marta; Sánchez, Alysson T.; Padilla Sirera, Natàlia; Feliubadaló, Lidia; diez, orland; Gutiérrez-Enríquez, Sara; De la Cruz Montserrat, Fco. Xavier (Elsevier, 2024-01) -
Choosing Variant Interpretation Tools for Clinical Applications: Context Matters
Aguirre, Josu; Padilla Sirera, Natàlia; Ozkan, Selen; Riera, Casandra; Feliubadaló, Lidia; De la Cruz Montserrat, Fco. Xavier (MDPI, 2023-07-24) -
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
Gracia-Diaz, Carolina; Zhou, Yijing; Yang, Qian; Maroofian, Reza; España, Paula; Lee, Chul-Hwan; Padilla Sirera, Natàlia (Nature Portfolio, 2023-07-11)