Publications
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 ;146(8):3273-3288.
. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 ;62(4):465-471.
. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 ;13(1):44-58.
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