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Ara mostrant els elements 1-10 d 10
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Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
(Oxford University Press, 2021-09) -
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders
(Nature Portfolio, 2023-07-11) -
Intrafamilial variability in SLC6A1-related neurodevelopmental disorders
(Frontiers Media, 2023-07-12) -
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
(American Association for the Advancement of Science, 2023-03-10) -
The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders
(Frontiers Media, 2023-08-17)