Jeremy Schwartzentruber
European Bioinformatics Institute
88 papers found
Refreshing results…
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.
Download from www.nature.comRecurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
Download from www.nature.comHistone H3 Mutations in Pediatric Brain Tumors
Download from cshperspectives.cshlp.orgThe utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
Download from dx.doi.orgExome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia
Download from onlinelibrary.wiley.comMutations in PIK3R1 Cause SHORT Syndrome
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