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11دورية أكاديمية
المؤلفون: Hartikka, Heini, Mäkitie, Outi, Männikkö, Minna, Doria, Andrea S, Daneman, Alan, Cole, William G, Ala-Kokko, Leena, Sochett, Etienne B
المصدر: Department of Pathology & Laboratory Medicine
مصطلحات موضوعية: Adolescent, Child, Collagen, Collagen Type I, alpha 1 Chain, Female, Frameshift Mutation, Genetic Variation, Heterozygote, Humans, LDL-Receptor Related Proteins, Low Density Lipoprotein Receptor-Related Protein-5, Male, Models, Genetic, Mutation, Missense, Osteogenesis Imperfecta, Osteoporosis, Phenotype, RNA, Reverse Transcriptase Polymerase Chain Reaction, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences
العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1296Test; https://pubmed.ncbi.nlm.nih.gov/15824851Test/
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12دورية أكاديمية
المؤلفون: Gensure, Robert C, Mäkitie, Outi, Barclay, Catherine, Chan, Catherine, Depalma, Steven R, Bastepe, Murat, Abuzahra, Hilal, Couper, Richard, Mundlos, Stefan, Sillence, David, Ala Kokko, Leena, Seidman, Jonathan G, Cole, William G, Jüppner, Harald
المصدر: Department of Pathology & Laboratory Medicine
مصطلحات موضوعية: Bone and Bones, Chromosome Mapping, Chromosomes, Human, Pair 17, Collagen Type I, alpha 1 Chain, Dermis, Female, Fibula, Haplotypes, Humans, Hyperostosis, Cortical, Congenital, Infant, Male, Mutation, Pedigree, Radiography, Tibia, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences
العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1298Test; https://pubmed.ncbi.nlm.nih.gov/15864348Test/
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13دورية أكاديمية
المؤلفون: Mäkitie, Outi, Mortier, Geert R, Czarny-Ratajczak, Malwina, Wright, Michael J, Suri, Mohnish, Rogala, Piotr, Freund, Margarida, Jackson, Gail C, Jakkula, Eveliina, Ala-Kokko, Leena, Briggs, Michael D, Cole, William G
المصدر: Department of Pathology & Laboratory Medicine
مصطلحات موضوعية: Adolescent, Adult, Child, Preschool, DNA Mutational Analysis, Extracellular Matrix Proteins, Family, Female, Humans, Male, Matrilin Proteins, Middle Aged, Mutation, Osteochondrodysplasias, Phenotype, Radiography, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences
العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1288Test; https://pubmed.ncbi.nlm.nih.gov/14994237Test/