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American Journal of Ophthalmology|July 1, 1997
Surgical correction of incomplete cryptophthalmos in Fraser syndromeK Dibben, Y S Rabinowitz, N Shorr, et al.International Journal of Pediatric Otorhinolaryngology|November 22, 2002
Cochlear implantation in Jervell and Lange-Nielsen syndromeR Chorbachi, J M Graham, J Ford, et al.Journal of Medical Genetics|April 4, 2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderG R Mortier, M Weis, L Nuytinck, et al.Nature Genetics|July 3, 1999
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndromeN Braverman, P Lin, F F Moebius, et al.Nature Genetics|March 1, 1995
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3P L Tavormina, R Shiang, L M Thompson, et al.American Journal of Medical Genetics|July 16, 1999
Small deletions in the type II collagen triple helix produce kniest dysplasiaD J Wilkin, A S Artz, S South, et al.Nature Genetics|July 1, 1995
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein geneM D Briggs, S M Hoffman, L M King, et al.Analytical Biochemistry|May 8, 1998
Dissection of hepatic receptor-mediated endocytic pathways using self-generated gradients of iodixanol (Optiprep)D Billington, P J Maltby, A P Jackson, et al.Obstetrics and Gynecology|May 1, 1992
The Zavanelli maneuver: a different perspectiveJ M Graham, J D Blanco, T Wen, et al.American Journal of Medical Genetics|October 1, 1993
Compromise of the spinal canal in Proteus syndromeF Skovby, J M Graham, S Sonne-Holm, et al.Pageof 42