Presentation
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...