AAAAAA

   
Results: 1-6 |
Results: 6

Authors: Vajo, Z Francomano, CA Wilkin, DJ
Citation: Z. Vajo et al., The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans, ENDOCR REV, 21(1), 2000, pp. 23-39

Authors: Wilkin, DJ Liberfarb, R Davis, J Levy, HP Cole, WG Francomano, CA Cohn, DH
Citation: Dj. Wilkin et al., Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons, AM J MED G, 94(2), 2000, pp. 141-148

Authors: Mortier, GR Weis, M Nuytinck, L King, LM Wilkin, DJ De Paepe, A Lachman, RS Rimoin, D Eyre, DR Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder, J MED GENET, 37(4), 2000, pp. 263-271

Authors: Mortier, GR Weis, M Nuytinck, L King, LM Wilkin, DJ DePaepe, A Lachman, RS Rimoin, D Eyre, DR Cohn, DH
Citation: Gr. Mortier et al., Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder (vol 37, pg 263, 2000), J MED GENET, 37(10), 2000, pp. 815-815

Authors: Vajo, Z King, LM Jonassen, T Wilkin, DJ Ho, N Munnich, A Clarke, CF Francomano, CA
Citation: Z. Vajo et al., Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast tohuman: a gene required for ubiquinone biosynthesis with potential implications for aging, MAMM GENOME, 10(10), 1999, pp. 1000-1004

Authors: Wilkin, DJ Artz, AS South, S Lachman, RS Rimoin, DL Wilcox, WR McKusick, VA Stratakis, CA Francomano, CA Cohn, DH
Citation: Dj. Wilkin et al., Small deletions in the type II collagen triple helix produce Kniest dysplasia, AM J MED G, 85(2), 1999, pp. 105-112
Risultati: 1-6 |