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List of works by Keith K Vaux

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

scientific journal article

FOXP1-related intellectual disability syndrome: a recognisable entity

scientific article

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

article

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