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Fani Galabova

Medical University Plovdiv

6

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20

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First case of Roma ethnic origin with Andermann syndrome: A novel frameshift mutation in exon 20 of SLC12A6 gene

2019 American Journal of Medical Genetics Part A
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Neurodevelopmental profile at 5 years of a boy with Dravet syndrome– like phenotype: Does SCN1A gene have something in common?

2016
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Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

2014 Molecular Genetics and Metabolism
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