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D H Cohn

Showing results (51-60 of 66) with videos related to

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The Journal of Biological Chemistry|October 15, 1988
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfectaD H Cohn, S Apone, D R Eyre, et al.
The Journal of Biological Chemistry|March 21, 1998
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationM A Weis, D J Wilkin, H J Kim, et al.
Journal of Medical Genetics|July 5, 2005
Mutations in FLNB cause boomerang dysplasiaL S Bicknell, T Morgan, L Bonafé, et al.
Pediatric Radiology|February 24, 2001
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotypeS L Unger, M D Briggs, P Holden, et al.
American Journal of Medical Genetics|November 7, 1998
Correlation of linkage data with phenotype in eight families with Stickler syndromeD J Wilkin, G R Mortier, C L Johnson, et al.
Clinical Genetics|December 25, 2004
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genesM Faiyaz-Ul-Haque, S H E Zaidi, L M King, 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|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.
Journal of Medical Genetics|June 11, 2009
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseasesT Furuichi, H Kayserili, S Hiraoka, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
The Journal of Biological Chemistry|October 15, 1988
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfectaD H Cohn, S Apone, D R Eyre, et al.
The Journal of Biological Chemistry|March 21, 1998
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationM A Weis, D J Wilkin, H J Kim, et al.
Journal of Medical Genetics|July 5, 2005
Mutations in FLNB cause boomerang dysplasiaL S Bicknell, T Morgan, L Bonafé, et al.
Pediatric Radiology|February 24, 2001
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotypeS L Unger, M D Briggs, P Holden, et al.
American Journal of Medical Genetics|November 7, 1998
Correlation of linkage data with phenotype in eight families with Stickler syndromeD J Wilkin, G R Mortier, C L Johnson, et al.
Clinical Genetics|December 25, 2004
Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genesM Faiyaz-Ul-Haque, S H E Zaidi, L M King, 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|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.
Journal of Medical Genetics|June 11, 2009
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseasesT Furuichi, H Kayserili, S Hiraoka, et al.
Pageof 7