Browsing by Author "Padilla Sirera, Natàlia"
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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)