Seema M Jamal
Affiliation: Boston University
- Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndromeSeema M Jamal
Center for Human Genetics, Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts 02118, USA
Am J Med Genet A 152:2475-81. 2010....
- Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8Eyby Leon
Center for Human Genetics, Boston University School of Medicine, Massachusetts, USA
Am J Med Genet A 155:1740-4. 2011..0 SNP microarray and high resolution chromosome analyses in lymphocytes. The aneuploidy was detected in fibroblasts and confirmed by FISH in lymphocytes. This report elaborates further the clinical variability seen in trisomy 8 mosaicism...