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Results: 1-6 |
Results: 6

Authors: Finegold, DN Kimak, MA Lawrence, EC Levinson, KL Cherniske, EM Pober, BR Dunlap, JW Ferrell, RE
Citation: Dn. Finegold et al., Truncating mutations in FOXC2 cause multiple lymphedema syndromes, HUM MOL GEN, 10(11), 2001, pp. 1185-1189

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: Cherniske, EM Sadler, LS Schwartz, D Carpenter, TO Pober, BR
Citation: Em. Cherniske et al., Early puberty in Williams syndrome, CLIN DYSMOR, 8(2), 1999, pp. 117-121

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
Risultati: 1-6 |