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2. Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study. Issue 1 (December 2016)

3. Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. (16th March 2016)

4. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. (25th June 2015)

6. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. Issue 1 (December 2016)

8. Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. Issue 1 (December 2016)