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Results: 1-6 |
Results: 6

Authors: Schweitzer, DN Graham, JM Lachman, RS Jabs, EW Okajima, K Przylepa, KA Shanske, A Chen, K Neidich, JA Wilcox, WR
Citation: Dn. Schweitzer et al., Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3, AM J MED G, 98(1), 2001, pp. 75-91

Authors: Shanske, A Ferreira, JC Leonard, JC Fuller, P Marion, RW
Citation: A. Shanske et al., Hirschsprung disease in an infant with a contiguous gene syndrome of chromosome 13, AM J MED G, 102(3), 2001, pp. 231-236

Authors: Edelmann, L Spiteri, E Koren, K Pulijaal, V Bialer, MG Shanske, A Goldberg, R Morrow, BE
Citation: L. Edelmann et al., AT-rich palindromes mediate the constitutional t(11;22) translocation, AM J HU GEN, 68(1), 2001, pp. 1-13

Authors: Raynes, HR Shanske, A Goldberg, S Burde, R Rapin, I
Citation: Hr. Raynes et al., Joubert syndrome: Monozygotic twins with discordant phenotypes, J CHILD NEU, 14(10), 1999, pp. 649-654

Authors: Shanske, A Ellison, J Vuguin, P Dowling, P Wasserman, E Heinrich, J Saenger, P
Citation: A. Shanske et al., Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature, AM J MED G, 82(1), 1999, pp. 34-39

Authors: Funke, B Edelmann, L McCain, N Pandita, RK Ferreira, J Merscher, S Zohouri, M Cannizzaro, L Shanske, A Morrow, BE
Citation: B. Funke et al., Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a1.5-Mb region of overlap on chromosome 22q11, AM J HU GEN, 64(3), 1999, pp. 747-758
Risultati: 1-6 |