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Vasiliki Karageorgou

16

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Το porfolio (φάκελος εργασίας) ως εναλλακτική μορφή αξιολόγησης στο δημοτικό σχολείο

2021
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Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

2021 Brain
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A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

2020 European Journal of Human Genetics
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Author response for " VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features"

2019
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VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features

2019 Clinical Genetics
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Diagnostic Utility of Biomarkers

2019
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The Regulation of Water Services in the EU: A Difficult Attempt to Balance Between Environmental, Economic and Social Interests

2019 European energy and environmental law review
- Vasiliki Karageorgou
- Kleoniki Pouikli
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Metabolic biomarker testing facilitates genetic diagnosis of Niemann-Pick disease by enabling classification of novel SMPD1 variants

2019
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A Novel Genetic Syndrome

2019
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The EU Regulatory Framework to Deal with the Environmental Effects of the Mining Activities - Assessing the Effectiveness

2016 European energy and environmental law review
- Vasiliki Karageorgou
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