Research output per year
Research output per year
Search results
-
2014
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle-Am J Med Genet Part A 161A: 3121-3125
Villarreal, D. D., Villarreal, H., Paez, A. M., Peppas, D., Lynch, J., Roeder, E. & Powers, G. C., Jul 2014, In: American Journal of Medical Genetics, Part A. 164, 7, p. 1872 1 p.Research output: Contribution to journal › Comment/debate › peer-review
Open Access -
2004
Precision in phenotyping and genotyping.
Cody, J. D. & Hale, D. E., Dec 15 2004, In: American journal of medical genetics. Part A. 131, 3, p. 313 1 p.Research output: Contribution to journal › Comment/debate › peer-review
4 Scopus citations