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Hledat publikace relevantní k dotazu "X-linked intellectual disability"
X-linked intellectual disability
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publication
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
2023 |
1. lékařská fakulta
publication
A de novo GRIA3 variant with complex hyperkinetic movement disorder in a girl with developmental delay and self-limited epilepsy
2023 |
1. lékařská fakulta
publication
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
2019 |
2. lékařská fakulta
publication
De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy
2016 |
2. lékařská fakulta