|
Davis, E; Grafe, M; Cunniff, C et al. (1991) Interstitial deletion of chromosome 2q associated with ovarian dysgenesis. Clin Genet 39:386-90
|
|
Barshop, B A; Yoshida, I; Ajami, A et al. (1991) Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Pediatr Res 30:15-22
|
|
Cunniff, C; Jones, K L; Benirschke, K (1991) Ovarian dysgenesis in individuals with chromosomal abnormalities. Hum Genet 86:552-6
|
|
Cunniff, C; Jones, K L (1990) Craniosynostosis and lid anomalies: report of a girl with Michels syndrome. Am J Med Genet 37:28-30
|
|
Cunniff, C; Jones, K L; Jones, M C (1990) Patterns of malformation in children with congenital diaphragmatic defects. J Pediatr 116:258-61
|
|
Cunniff, C; Jones, K L; Phillipson, J et al. (1990) Oligohydramnios sequence and renal tubular malformation associated with maternal enalapril use. Am J Obstet Gynecol 162:187-9
|
|
Barshop, B A; Wolff, J; Nyhan, W L et al. (1990) Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin. Am J Med Genet 35:222-8
|
|
Cunniff, C; Jones, K L; Saal, H M et al. (1990) Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics 85:499-504
|
|
Bonnefont, J P; Haas, R; Wolff, J et al. (1989) Deficiency of carnitine palmitoyltransferase I. J Child Neurol 4:198-203
|
|
Barshop, B A; Alberts, A S; Gruber, H E (1989) Kinetic studies of mutant human adenylosuccinase. Biochim Biophys Acta 999:19-23
|
Showing the most recent 10 out of 24 publications
