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UnknownLack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy.
Not available
S-EPMC4393229 | biostudies-literature
UnknownClinical Outcome and Quality of Life of Multimodal Treatment of Extracranial Arteriovenous Malformations: The APOLLON Study Protocol.
Not available
S-EPMC9810564 | biostudies-literature
UnknownExtracranial Vascular Anomalies Driven by RAS/MAPK Variants: Spectrum and Genotype-Phenotype Correlations.
Not available
S-EPMC11262533 | biostudies-literature
UnknownSomatic RIT1 delins in arteriovenous malformations hyperactivate RAS-MAPK signaling amenable to MEK inhibition.
Not available
S-EPMC11564399 | biostudies-literature
UnknownSmart Medical Information Technology for Healthcare (SMITH).
Not available
S-EPMC6193398 | biostudies-literature
UnknownMutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Not available
S-EPMC2765465 | biostudies-literature
UnknownThe landscape of epilepsy-related GATOR1 variants.
Not available
S-EPMC6292495 | biostudies-literature
UnknownNon-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Not available
S-EPMC11874398 | biostudies-literature
UnknownMutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Not available
S-EPMC5819591 | biostudies-literature
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