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- 2017
- Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome
- Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
- 2016
- Y RIN2 syndrome : expanding the clinical phenotype
- Barber-Say syndrome and Ablepharon-Macrostomia syndrome : an overview
- 2015
- Recurrent duplications of 17q12 associated with variable phenotypes
- Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation
- Association between Kniest dysplasia and chondrosarcoma in a child
- Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
- The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
- 2014
- Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country