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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
UploadBi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
UploadITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy
Download from doi.orgNAA10 polyadenylation signal variants cause syndromic microphthalmia
UploadLow-frequency variation in TP53 has large effects on head circumference and intracranial volume
Download from www.nature.comDemonstration of MeV-Scale Physics in Liquid Argon Time Projection Chambers Using ArgoNeuT
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