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One or more keywords matched the following items that are connected to Pober, Barbara
Item TypeName
Academic Article KCNE1-like gene is deleted in AMME contiguous gene syndrome: identification and characterization of the human and mouse homologs.
Academic Article FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.
Academic Article Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
Academic Article Hemizygous deletion of the syntaxin 1A gene in individuals with Williams syndrome.
Academic Article Differences by sex in cardiovascular disease in Williams syndrome.
Academic Article Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR).
Academic Article Discriminating power of localized three-dimensional facial morphology.
Academic Article Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome.
Academic Article Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME).
Academic Article Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.
Academic Article FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.
Concept Gene Deletion
Academic Article The proceedings of the 15th professional conference on Williams Syndrome.
Search Criteria
  • Gene Deletion
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.