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Publications

Found 3 results
Filters: Keyword is Mutation  [Clear All Filters]
2018
Wilnai Y, Blumenfeld YJ, Cusmano K, Hintz SR, Alcorn D, Benitz WE, Berquist WE, Bernstein JA, Castillo RO, Concepcion W et al..  2018.  Prenatal treatment of ornithine transcarbamylase deficiency.. Mol Genet Metab. 123(3):297-300.
2014
Gu W, Koh W, Blumenfeld YJ, El-Sayed YY, Hudgins L, Hintz SR, Quake SR.  2014.  Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia.. Genet Med. 16(7):564-7.
Myers A, Bernstein JA, Brennan M-L, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi A-K et al..  2014.  Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.. Am J Med Genet A. 164A(11):2814-21.