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3 Records found.
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1.
Distelmaier, F.* et al.: Blue diaper syndrome and PCSK1 mutations. Pediatrics 141, 5, S501-S505 (2018)
2.
Fritzen, D.* et al.: De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Hum. Genet. 137, 401-411 (2018)
3.
Kuechler, A.* et al.: Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur. J. Hum. Genet. 25, 183-191 (2017)