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UnknownModel Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
Not available
S-EPMC5586389 | biostudies-literature
UnknownClinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Not available
S-EPMC5557584 | biostudies-literature
UnknownBi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment.
Not available
S-EPMC9918471 | biostudies-literature
UnknownDominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Not available
S-EPMC11206234 | biostudies-literature
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