Your search returned 81 results.

Results
	41.	Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. [electronic resource] by Wilkin, D J Liberfarb, R Davis, J Levy, H P Cole, W G Francomano, C A Cohn, D H Producer: 20001019 In: American journal of medical genetics vol. 94 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. [electronic resource] by Badiner, N Taylor, S P Forlenza, K Lachman, R S Bamshad, M Nickerson, D Cohn, D H Krakow, D Producer: 20180418 In: Clinical genetics vol. 92 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Nucleotide sequence of the luxA gene of Vibrio harveyi and the complete amino acid sequence of the alpha subunit of bacterial luciferase. [electronic resource] by Cohn, D H Mileham, A J Simon, M I Nealson, K H Rausch, S K Bonam, D Baldwin, T O Producer: 19850627 In: The Journal of biological chemistry vol. 260 Availability: No items available. Save to lists Add to cart (remove)
	44.	An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis. [electronic resource] by Bogaert, R Tiller, G E Weis, M A Gruber, H E Rimoin, D L Cohn, D H Eyre, D R Producer: 19921201 In: The Journal of biological chemistry vol. 267 Availability: No items available. Save to lists Add to cart (remove)
	45.	A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. [electronic resource] by Mortier, G R Wilkin, D J Wilcox, W R Rimoin, D L Lachman, R S Eyre, D R Cohn, D H Producer: 19950629 In: Human molecular genetics vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita. [electronic resource] by Tiller, G E Weis, M A Polumbo, P A Gruber, H E Rimoin, D L Cohn, D H Eyre, D R Producer: 19950309 In: American journal of human genetics vol. 56 Availability: No items available. Save to lists Add to cart (remove)
	47.	High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12. [electronic resource] by Knowlton, R G Cekleniak, J A Cohn, D H Briggs, M D Hoffman, S M Brandriff, B F Olsen, A S Producer: 19960103 In: Genomics vol. 28 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. [electronic resource] by Cohn, D H Briggs, M D King, L M Rimoin, D L Wilcox, W R Lachman, R S Knowlton, R G Producer: 19960903 In: Annals of the New York Academy of Sciences vol. 785 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II. [electronic resource] by Brodie, S G Lachman, R S Crandall, B F Fox, M A Rimoin, D L Cohn, D H Wilcox, W R Producer: 19990225 In: American journal of medical genetics vol. 80 Availability: No items available. Save to lists Add to cart (remove)
	50.	Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia. [electronic resource] by Fernandes, R J Wilkin, D J Weis, M A Wilcox, W R Cohn, D H Rimoin, D L Eyre, D R Producer: 19980818 In: Archives of biochemistry and biophysics vol. 355 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen. [electronic resource] by Pruchno, C J Cohn, D H Wallis, G A Willing, M C Starman, B J Zhang, X M Byers, P H Producer: 19910702 In: Human genetics vol. 87 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	Cloning of the Vibrio harveyi luciferase genes: use of a synthetic oligonucleotide probe. [electronic resource] by Cohn, D H Ogden, R C Abelson, J N Baldwin, T O Nealson, K H Simon, M I Mileham, A J Producer: 19830324 In: Proceedings of the National Academy of Sciences of the United States of America vol. 80 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia. [electronic resource] by Loughlin, J Irven, C Mustafa, Z Briggs, M D Carr, A Lynch, S A Knowlton, R G Cohn, D H Sykes, B Producer: 19990630 In: Human mutation vol. Suppl 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	Novel mutations in the EXT1 gene in two consanguineous families affected with multiple hereditary exostoses (familial osteochondromatosis). [electronic resource] by Faiyaz-Ul-Haque, M Ahmad, W Zaidi, S H E Hussain, S Haque, S Ahmad, M Cohn, D H Tsui, L-C Producer: 20050224 In: Clinical genetics vol. 66 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. [electronic resource] by Briggs, M D Rasmussen, I M Weber, J L Yuen, J Reinker, K Garber, A P Rimoin, D L Cohn, D H Producer: 19940317 In: Genomics vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	56.	Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. [electronic resource] by Krakow, D Reinker, K Powell, B Cantor, R Priore, M A Garber, A Lachman, R S Rimoin, D L Cohn, D H Producer: 19980813 In: American journal of human genetics vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. [electronic resource] by Ahmad, M Faiyaz Ul Haque, M Ahmad, W Abbas, H Haque, S Krakow, D Rimoin, D L Lachman, R S Cohn, D H Producer: 19981026 In: American journal of medical genetics vol. 78 Availability: No items available. Save to lists Add to cart (remove)
	58.	Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome). [electronic resource] by Faiyaz-Ul-Haque, M Ahmad, W Zaidi, S H E Haque, S Teebi, A S Ahmad, M Cohn, D H Tsui, L-C Producer: 20030717 In: Clinical genetics vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	59.	First-trimester prenatal diagnosis of osteogenesis imperfecta type II by DNA analysis and sonography. [electronic resource] by DiMaio, M S Barth, R Koprivnikar, K E Sussman, B L Copel, J A Mahoney, M J Byers, P H Cohn, D H Producer: 19931123 In: Prenatal diagnosis vol. 13 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	60.	Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. [electronic resource] by Tiller, G E Polumbo, P A Weis, M A Bogaert, R Lachman, R S Cohn, D H Rimoin, D L Eyre, D R Producer: 19951120 In: Nature genetics vol. 11 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

Refine your search

Availability

Authors

Topics

Languages

Your search returned 81 results.