I A Holm
Affiliation: Harvard University
- Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic ricketsI A Holm
Division of Genetics, Children s Hospital, Boston, MA 02115, USA
Am J Hum Genet 60:790-7. 1997....
- Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic ricketsI A Holm
Division of Endocrinology, Department of Medicine, Children's Hospital, Boston, Massachusetts 02115, USA
J Clin Endocrinol Metab 86:3889-99. 2001..Furthermore, this study suggests that other genes and environmental factors affect the severity of hypophosphatemic rickets...
- Peripheral blood gene expression signature differentiates children with autism from unaffected siblingsS W Kong
Informatics Program at the Harvard Massachusetts Institute of Technology Division of Health Sciences and Technology, Boston Children s Hospital, Boston, MA, 02115, USA
Neurogenetics 14:143-52. 2013..Further integrative study with structural genetic variations such as de novo mutations, rare variants, and copy number variations would clarify whether these transcriptomic changes are structural or environmental in origin...