Presentation
Scientific Publications
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2020Journal (source)Nat Commun
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph...
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2020Journal (source)Am J Hum Genet
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2020Journal (source)Am. J. Hum. Genet.
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Dis...
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2019Journal (source)Brain
KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with p...
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2018Journal (source)Brain
De novo mutation screening in childhood-onset cerebellar atrophy identifies g...
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Journal (source)Orphanet journal of rare diseases
Next generation phenotyping using narrative reports in a rare disease clinica...
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Journal (source)Journal of biomedical informatics
Finding patients using similarity measures in a rare diseases-oriented clinic...
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Journal (source)J Neuropathol Exp Neurol
Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Rela...
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2017Journal (source)Am J Med Genet A
Prenatal and postnatal presentations of corpus callosum agenesis with polymic...
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2016Journal (source)Am. J. Hum. Genet.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...
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2015Journal (source)Diabetes Care
Sulfonylurea Therapy Benefits Neurological and Psychomotor Functions in Patie...