Publications
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain. 2023 ;146(12):5031-5043.
. . Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genet Med. 2023 ;25(1):90-102.
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