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4. Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype. Issue 5 (22nd February 2011)

5. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Issue 3 (13th October 2016)

7. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Issue 8 (18th January 2017)