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2012
Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder.Dauber, A., Stoler J., Hechter E., Safer J., and Hirschhorn JN The Journal of pediatrics, 2012/09/10, (2012) Read More / View Supplemental Materials
Abstract
Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein.Dauber, A., Lafranchi SH, Maliga Z., Lui JC, Moon JE, McDeed C., Henke K., Zonana J., Kingman GA, Pers TH, Baron J., Rosenfeld RG, Hirschhorn JN, Harris MP, and Hwa V. The Journal of clinical endocrinology and metabolism, 2012/08/29, (2012) Read More / View Supplemental Materials
Abstract
2011
Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions.Dauber, A., Yu Y., Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y., Wu BL, and Hirschhorn JN American journal of human genetics, 2011/12/09, Volume 89, Issue 6, p.751-9, (2011) Read More / View Supplemental Materials
Abstract
Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia.Dauber, A., Nguyen TT, Sochett E., Cole DE, Horst R., Abrams SA, Carpenter TO, and Hirschhorn JN The Journal of clinical endocrinology and metabolism, 2011/11/23, (2011) Read More / View Supplemental Materials
Abstract
  • Showing 1-4 of 4 Results