Authors:
Hisama, FM
Zemel, S
Cherniske, EM
Vladutiu, GD
Pober, BR
Citation: Fm. Hisama et al., New syndrome? 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters, AM J MED G, 98(2), 2001, pp. 121-124
Authors:
Brown, CA
Lanning, RW
McKinney, KQ
Salvino, AR
Cherniske, E
Crowe, CA
Darras, BT
Gominak, S
Greenberg, CR
Grosmann, C
Heydemann, P
Mendell, JR
Pober, BR
Sasaki, T
Shapiro, F
Simpson, DA
Suchowersky, O
Spence, JE
Citation: Ca. Brown et al., Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifussmuscular dystrophy, AM J MED G, 102(4), 2001, pp. 359-367
Authors:
Pehlivan, T
Pober, BR
Brueckner, M
Garrett, S
Slaugh, R
Van Rheeden, R
Wilson, DB
Watson, MS
Hing, AV
Citation: T. Pehlivan et al., GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease, AM J MED G, 83(3), 1999, pp. 201-206
Authors:
Al Odaib, A
Shneider, BL
Bennett, MJ
Pober, BR
Reyes-Mugica, M
Friedman, AL
Suchy, FJ
Rinaldo, P
Citation: A. Al Odaib et al., A defect in the transport of long-chain fatty acids associated with acute liver failure, N ENG J MED, 339(24), 1998, pp. 1752-1757