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- 2018
- Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
- 2015
- A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
- 2014
- A Case with Bladder Exstrophy and Unbalanced X Chromosome Rearrangement
- Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
- 2001
- Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity