Presentation
Contact
Paula owns a Bachelor Degree in Biology from the University of Sevilla (Spain), and a Master Degree in Cellular and Molecular Neuroscience from the University of Tübingen (Germany). During her studies Paula worked on molecular brain development, as well as neural circuits and gene therapy.
Paula is joining the lab in April 2025 as a research assistant.
Resources & publications
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2018Journal (source)Am. J. Hum. Genet.NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with...
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2021Journal (source)Genet Med
Deep phenotyping unstructured data mining in an extensive pediatric database ...
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2021Journal (source)Genet Med
Deep phenotyping unstructured data mining in an extensive pediatric database ...
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2021Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2014Journal (source)Am J Hum Genet
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical ...
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2025Journal (source)Brain
Chloride deregulation and GABA depolarization in MTOR-related malformations o...