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Results: 1-9 |
Results: 9
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism
Authors: Graham, JM Krakow, D Tolo, VT Smith, AK Lachman, RS
Citation: Jm. Graham et al., Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism, PEDIAT RAD, 31(1), 2001, pp. 2-9
Use of three-dimensional ultrasonography in differentiating craniosynostosis from severe fetal molding
Authors: Krakow, D Santulli, T Platt, LD
Citation: D. Krakow et al., Use of three-dimensional ultrasonography in differentiating craniosynostosis from severe fetal molding, J ULTR MED, 20(4), 2001, pp. 427-431
Case 12: Obstetric - Campomelic dysplasia
Authors: Krakow, D Carlson, D
Citation: D. Krakow et D. Carlson, Case 12: Obstetric - Campomelic dysplasia, J ULTR MED, 20(4), 2001, pp. 445-445
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita
Authors: Unger, S Korkko, J Krakow, D Lachman, RS Rimoin, DL Cohn, DH
Citation: S. Unger et al., Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita, AM J MED G, 104(2), 2001, pp. 140-146
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes
Authors: Krakow, D Salazar, D Wilcox, WR Rimoin, DL Cohn, DH
Citation: D. Krakow et al., Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes, EUR J HUM G, 8(8), 2000, pp. 645-648
Femur length and trisomy 21: impact of gestational age on screening efficiency
Authors: Snijders, RJM Platt, LD Greene, N Carlson, D Krakow, D Gregory, K Bradley, K
Citation: Rjm. Snijders et al., Femur length and trisomy 21: impact of gestational age on screening efficiency, ULTRASOUN O, 16(2), 2000, pp. 142-145
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
Authors: Korkko, J Cohn, DH Ala-Kokko, L Krakow, D Prockop, DJ
Citation: J. Korkko et al., Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis, AM J MED G, 92(2), 2000, pp. 95-100
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Authors: Gong, YQ Krakow, D Marcelino, J Wilkin, D Chitayat, D Babul-Hirji, R Hudgins, L Cremers, CW Cremers, FPM Brunner, HG Reinker, K Rimoin, DL Cohn, DH Goodman, FR Reardon, W Patton, M Francomano, CA Warman, ML
Citation: Yq. Gong et al., Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis, NAT GENET, 21(3), 1999, pp. 302-304
Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene
Authors: Colige, A Sieron, AL Li, SW Schwarze, U Petty, E Wertelecki, W Wilcox, W Krakow, D Cohn, DH Reardon, W Byers, PH Lapiere, CM Prockop, DJ Nusgens, BV
Citation: A. Colige et al., Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen IN-proteinase gene, AM J HU GEN, 65(2), 1999, pp. 308-317
Risultati: 1-9 |