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L Ala-Kokko

Showing results (71-80 of 85) with videos related to

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Human Mutation|January 1, 1995
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IVS Thakker-Varia, D W Anderson, H Kuivaniemi, et al.
Pediatric Radiology|February 24, 2001
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotypeS L Unger, M D Briggs, P Holden, et al.
Osteoarthritis and Cartilage|June 1, 2005
The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritisE Jakkula, M Melkoniemi, I Kiviranta, et al.
Osteoarthritis and Cartilage|November 26, 2015
Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritisM Taipale, E Jakkula, O-P Kämäräinen, et al.
Human Mutation|January 1, 1992
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNAC J Williams, D A Harrison, I Hopkinson, et al.
JAMA|April 20, 2001
Identification of a novel common genetic risk factor for lumbar disk diseaseP Paassilta, J Lohiniva, H H Göring, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
American Journal of Human Genetics|September 21, 2001
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneityM Czarny-Ratajczak, J Lohiniva, P Rogala, et al.
The Journal of Biological Chemistry|July 31, 1999
Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variantsP Paassilta, T Pihlajamaa, S Annunen, et al.
Science (New York, N.Y.)|July 20, 1999
An allele of COL9A2 associated with intervertebral disc diseaseS Annunen, P Paassilta, J Lohiniva, et al.
Pageof 9

Showing results (71-80 of 85) with videos related to

Sort By:
Pageof 9
Human Mutation|January 1, 1995
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IVS Thakker-Varia, D W Anderson, H Kuivaniemi, et al.
Pediatric Radiology|February 24, 2001
Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotypeS L Unger, M D Briggs, P Holden, et al.
Osteoarthritis and Cartilage|June 1, 2005
The role of sequence variations within the genes encoding collagen II, IX and XI in non-syndromic, early-onset osteoarthritisE Jakkula, M Melkoniemi, I Kiviranta, et al.
Osteoarthritis and Cartilage|November 26, 2015
Targeted re-sequencing of linkage region on 2q21 identifies a novel functional variant for hip and knee osteoarthritisM Taipale, E Jakkula, O-P Kämäräinen, et al.
Human Mutation|January 1, 1992
Detection of sequence variants in the gene for human type II procollagen (COL2A1) by direct sequencing of polymerase chain reaction-amplified genomic DNAC J Williams, D A Harrison, I Hopkinson, et al.
JAMA|April 20, 2001
Identification of a novel common genetic risk factor for lumbar disk diseaseP Paassilta, J Lohiniva, H H Göring, et al.
American Journal of Human Genetics|March 21, 2000
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 geneM Melkoniemi, H G Brunner, S Manouvrier, et al.
American Journal of Human Genetics|September 21, 2001
A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneityM Czarny-Ratajczak, J Lohiniva, P Rogala, et al.
The Journal of Biological Chemistry|July 31, 1999
Complete sequence of the 23-kilobase human COL9A3 gene. Detection of Gly-X-Y triplet deletions that represent neutral variantsP Paassilta, T Pihlajamaa, S Annunen, et al.
Science (New York, N.Y.)|July 20, 1999
An allele of COL9A2 associated with intervertebral disc diseaseS Annunen, P Paassilta, J Lohiniva, et al.
Pageof 9