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Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study

PloS one, 2017-05, Vol.12 (5), p.e0176466-e0176466

2017

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Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1042-1050

2015

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Determination of Fucose Concentration in a Lectin-Based Displacement Microfluidic Assay

Applied biochemistry and biotechnology, 2019-07, Vol.188 (3), p.868-877

2019

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Mesenchymal Stem Cell Therapy for Osteogenesis Imperfecta

Clinical obstetrics and gynecology, 2021-12, Vol.64 (4), p.898

2021

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Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Bone (New York, N.Y.), 2018-09, Vol.114, p.268-277

2018

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Reverse lectin ELISA for detecting fucosylated forms of α1-acid glycoprotein associated with hepatocellular carcinoma

PloS one, 2017, Vol.12 (3), p.e0173897-e0173897

2017

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Disialo–trisialo bridging of transferrin is due to increased branching and fucosylation of the carbohydrate moiety

Clinica chimica acta, 2012-12, Vol.414, p.58-64

2012

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Elucidating the selectivity of recombinant forms of Aleuria aurantia lectin using weak affinity chromatography

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2012-02, Vol.885-886, p.66-72

2012

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Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta

Archives of disease in childhood, 2007-04, Vol.92 (4), p.332-338

2007

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Production and characterization of a monomeric form and a single-site form of Aleuria aurantia lectin

Glycobiology (Oxford), 2011-01, Vol.21 (1), p.34-44

2011

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Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta

Orphanet journal of rare diseases, 2020-03, Vol.15 (1), p.80-80, Article 80

2020

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Pre‐ and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two‐Center Experience

Stem cells translational medicine, 2014-02, Vol.3 (2), p.255-264

2014

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Changes in the Expression of Nephrin Gene and Protein in Experimental Diabetic Nephropathy

Laboratory investigation, 2001-09, Vol.81 (9), p.1185-1190

2001

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Intravenous Pamidronate Treatment Improves Growth in Prepubertal Osteogenesis Imperfecta Patients

Hormone research in paediatrics, 2011-01, Vol.75 (5), p.354-361

2011

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Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence

Neurology, 2024-01, Vol.102 (2), p.e207948

2024

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Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta

Transplantation, 2005-06, Vol.79 (11), p.1607

2005

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Molecular cloning and characterization of an endogenous antisense transcript of Nphs1

Genomics (San Diego, Calif.), 2004-06, Vol.83 (6), p.1134-1140

2004

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Nephrin TRAP mice lack slit diaphragms and show fibrotic glomeruli and cystic tubular lesions

Journal of the American Society of Nephrology, 2002-06, Vol.13 (6), p.1586-1594

2002

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Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta

International journal of medical sciences, 2013-01, Vol.10 (10), p.1333-1343

2013

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Patients' priorities and expectations on an EU registry for rare bone and mineral conditions

Orphanet journal of rare diseases, 2021-11, Vol.16 (1), p.463-463, Article 463

2021

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A novel protein, densin, expressed by glomerular podocytes

Journal of the American Society of Nephrology, 2003-07, Vol.14 (7), p.1731-1737

2003

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Human Skeletal Muscle in Viral and Mycoplasma Infections: Ultrastructural Morphometry and Its Correlations to Enzyme Activities

Upsala journal of medical sciences, 1977-01, Vol.82 (3), p.191-194

1977

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Human Skeletal Muscle in Bacterial Infection: Enzyme Activities and their Relationship to Age

Scandinavian journal of infectious diseases, 1977-09, Vol.9 (3), p.193-195

1977

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Effects of Viral and Mycoplasma Infections on the Ultrastructure of Human Skeletal Muscle

Scandinavian journal of infectious diseases, 1975-01, Vol.7 (4), p.273-276

1975

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Storage and Distribution of Organic Carbon and Nutrients in Acidic Soils Developed on Sulfidic Sediments: The Roles of Reactive Iron and Macropores

Environmental science & technology, 2024-05, Vol.58 (21), p.9200-9212

2024

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Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study

Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta

Determination of Fucose Concentration in a Lectin-Based Displacement Microfluidic Assay

Mesenchymal Stem Cell Therapy for Osteogenesis Imperfecta

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Reverse lectin ELISA for detecting fucosylated forms of α1-acid glycoprotein associated with hepatocellular carcinoma

Disialo–trisialo bridging of transferrin is due to increased branching and fucosylation of the carbohydrate moiety

Elucidating the selectivity of recombinant forms of Aleuria aurantia lectin using weak affinity chromatography

Intravenous pamidronate treatment of infants with severe osteogenesis imperfecta

Production and characterization of a monomeric form and a single-site form of Aleuria aurantia lectin

Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta

Pre‐ and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two‐Center Experience

Changes in the Expression of Nephrin Gene and Protein in Experimental Diabetic Nephropathy

Intravenous Pamidronate Treatment Improves Growth in Prepubertal Osteogenesis Imperfecta Patients

Bisphosphonates in Glucocorticoid-Treated Patients With Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence

Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta

Molecular cloning and characterization of an endogenous antisense transcript of Nphs1

Nephrin TRAP mice lack slit diaphragms and show fibrotic glomeruli and cystic tubular lesions

Allele dependent silencing of collagen type I using small interfering RNAs targeting 3'UTR Indels - a novel therapeutic approach in osteogenesis imperfecta

Patients' priorities and expectations on an EU registry for rare bone and mineral conditions

A novel protein, densin, expressed by glomerular podocytes

Human Skeletal Muscle in Viral and Mycoplasma Infections: Ultrastructural Morphometry and Its Correlations to Enzyme Activities

Human Skeletal Muscle in Bacterial Infection: Enzyme Activities and their Relationship to Age

Effects of Viral and Mycoplasma Infections on the Ultrastructure of Human Skeletal Muscle

Storage and Distribution of Organic Carbon and Nutrients in Acidic Soils Developed on Sulfidic Sediments: The Roles of Reactive Iron and Macropores

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