A Hamosh

发表

Facial dysgenesis: A novel facial syndrome with chromosome 7 deletion p15.1‐21.1

E. Jabs, A. Hamosh, J. Hoover-Fong, 2003, American journal of medical genetics. Part A.

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus.

M. Corey, L. Tsui, T. Dörk, 1992, American journal of human genetics.

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.

A. Hamosh, H. Dietz, R. Montgomery, 2001, Human molecular genetics.

Interstitial deletion of chromosome 2q32‐34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency)

A. Hamosh, M. Summar, G. Thomas, 2004, American journal of medical genetics. Part A.