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2024
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2023
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Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Not available
S-EPMC10690669
|
biostudies-literature
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Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center.
Not available
S-EPMC12010119
|
biostudies-literature
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Atorvastatin inhibits the immediate-early response gene EGR1 and improves the functional profile of CD4+T-lymphocytes in acute coronary syndromes.
Not available
S-EPMC5392205
|
biostudies-literature
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Loss of Wwox Perturbs Neuronal Migration and Impairs Early Cortical Development.
Not available
S-EPMC7300205
|
biostudies-literature
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A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Not available
S-EPMC9100683
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biostudies-literature
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Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.
Not available
S-EPMC11608842
|
biostudies-literature
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L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Not available
S-EPMC8528460
|
biostudies-literature
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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
Not available
S-EPMC7576150
|
biostudies-literature
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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.
Not available
S-EPMC11068106
|
biostudies-literature
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Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Not available
S-EPMC9985553
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biostudies-literature
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