(Q34316613)

1 August 2017

1 reference

title

Osteogenesis imperfecta. (English)

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1 August 2017

main subject

osteogenesis imperfecta

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author name string

Frank Rauch

series ordinal

1

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1 August 2017

Francis H Glorieux

series ordinal

2

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1 August 2017

language of work or name

English

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publication date

1 April 2004

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1 August 2017

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1 August 2017

volume

363

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1 August 2017

issue

9418

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1 August 2017

page(s)

1377-1385

1 reference

An osteopenic nonfracture syndrome with features of mild osteogenesis imperfecta associated with the substitution of a cysteine for glycine at triple helix position 43 in the pro alpha 1(I) chain of type I collagen

1 August 2017

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7 January 2021

Scanning electron microscopy of teeth in osteogenesis imperfecta type I.

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7 January 2021

Dental aberrations in children and adolescents with osteogenesis imperfecta

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7 January 2021

Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients

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7 January 2021

Hearing loss in children with osteogenesis imperfecta

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7 January 2021

How common is hearing impairment in osteogenesis imperfecta?

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7 January 2021

Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey

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7 January 2021

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-a

1 reference

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7 January 2021

Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

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7 January 2021

Genetic heterogeneity in osteogenesis imperfecta

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7 January 2021

Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect

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7 January 2021

Type V osteogenesis imperfecta: a new form of brittle bone disease

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7 January 2021

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

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7 January 2021

Causes of death in osteogenesis imperfecta

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7 January 2021

Life expectancy in osteogenesis imperfecta

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7 January 2021

Hyperplastic callus formation in osteogenesis imperfecta: CT and MRI findings

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7 January 2021

MRI and CT features of hyperplastic callus in osteogenesis imperfecta tarda

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7 January 2021

A light and electron microscopic study of osteogenesis imperfecta bone samples, with reference to collagen chemistry and clinical phenotype

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7 January 2021

Osteogenesis imperfecta type VII maps to the short arm of chromosome 3

1 reference

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7 January 2021

Bruck syndrome (osteogenesis imperfecta with congenital joint contractures): review and report on the first North American case

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7 January 2021

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

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7 January 2021

Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview.

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7 January 2021

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7 January 2021

Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia

1 reference

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7 January 2021

Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Osteoprotegerin deficiency and juvenile Paget's disease

1 reference

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7 January 2021

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype

1 reference

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7 January 2021

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene

1 reference

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7 January 2021

Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta

1 reference

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7 January 2021

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome

1 reference

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7 January 2021

Idiopathic juvenile osteoporosis: experience of twenty-one patients

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7 January 2021

Imaging of child abuse

1 reference

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7 January 2021

Bone density measurements by computed tomography in osteogenesis imperfecta type I

1 reference

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7 January 2021

Collagen fibril formation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Osteogenesis imperfecta: perspectives and opportunities

1 reference

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7 January 2021

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

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7 January 2021

Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

G76E substitution in type I collagen is the first nonlethal glutamic acid substitution in the alpha1(I) chain and alters folding of the N-terminal end of the helix

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Procollagen with skipping of alpha 1(I) exon 41 has lower binding affinity for alpha 1(I) C-telopeptide, impaired in vitro fibrillogenesis, and altered fibril morphology

1 reference

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7 January 2021

Comparative studies of osteoblast and fibroblast type I collagen in a patient with osteogenesis imperfecta type IV

1 reference

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7 January 2021

Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix

1 reference

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7 January 2021

Extracellular matrix stoichiometry in osteoblasts from patients with osteogenesis imperfecta

1 reference

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7 January 2021

Long-term extracellular matrix metabolism by cultured human osteogenesis imperfecta osteoblasts

1 reference

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7 January 2021

1 reference

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7 January 2021

The mineralization density of iliac crest bone from children with osteogenesis imperfecta

1 reference

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7 January 2021

Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering

1 reference

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7 January 2021

The Material Basis for Reduced Mechanical Properties in oim Mice Bones

1 reference

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7 January 2021

Age- and genotype-dependence of bone material properties in the osteogenesis imperfecta murine model (oim).

1 reference

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7 January 2021

Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Type-I collagen mutation compromises the post-yield behavior of Mov13 long bone

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Type I collagen mutation alters the strength and fatigue behavior of Mov13 cortical tissue

1 reference

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7 January 2021

Static and dynamic bone histomorphometry in children with osteogenesis imperfecta

1 reference

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7 January 2021

Osteogenesis imperfecta in childhood: treatment strategies

1 reference

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7 January 2021

Osteogenesis imperfecta in childhood: impairment and disability--a follow-up study

1 reference

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7 January 2021

Effects of withdrawal of bracing in matched pairs of children with osteogenesis imperfecta

1 reference

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7 January 2021

Surgical stabilisation of the lower limb in osteogenesis imperfecta using the Sheffield Telescopic Intramedullary Rod System

1 reference

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7 January 2021

Experience with Bailey-Dubow rodding in children with osteogenesis imperfecta

1 reference

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7 January 2021

Radiological manifestations of bisphosphonate treatment with APD in a child suffering from osteogenesis imperfecta

1 reference

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7 January 2021

Bisphosphonates: mechanisms of action

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7 January 2021

Alendronate mechanism of action: geranylgeraniol, an intermediate in the mevalonate pathway, prevents inhibition of osteoclast formation, bone resorption, and kinase activation in vitro

1 reference

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7 January 2021

Inhibition of bone resorption by alendronate and risedronate does not require osteoclast apoptosis

1 reference

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7 January 2021

Is APD a promising drug in the treatment of severe osteogenesis imperfecta?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Treatment of osteogenesis imperfecta with the bisphosphonate olpadronate (dimethylaminohydroxypropylidene bisphosphonate)

1 reference

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7 January 2021

Long-term effects of bisphosphonates on the growing skeleton. Studies of young patients with severe osteoporosis

1 reference

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7 January 2021

Intravenous pamidronate treatment in osteogenesis imperfecta

1 reference

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7 January 2021

Bone mass, size, and density in children and adolescents with osteogenesis imperfecta: effect of intravenous pamidronate therapy

1 reference

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7 January 2021

Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV.

1 reference

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7 January 2021

The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta

1 reference

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7 January 2021

Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism

1 reference

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7 January 2021

Cyclic administration of pamidronate in children with severe osteogenesis imperfecta

1 reference

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7 January 2021

Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta

1 reference

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7 January 2021

Pamidronate treatment of osteogenesis imperfecta--lack of correlation between clinical severity, age at onset of treatment, predicted collagen mutation and treatment response

1 reference

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7 January 2021

Rapid Increase in Grip Force After Start of Pamidronate Therapy in Children and Adolescents With Severe Osteogenesis Imperfecta

1 reference

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7 January 2021

Cyclic pamidronate infusion improves bone mineralisation and reduces fracture incidence in osteogenesis imperfecta

1 reference

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7 January 2021

Osteogenesis imperfecta and intravenous pamidronate

1 reference

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7 January 2021

Effect of cyclical intravenous pamidronate therapy in children with osteogenesis imperfecta. Open-label study in seven patients

1 reference

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7 January 2021

The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta.

1 reference

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7 January 2021

Intravenous neridronate in adults with osteogenesis imperfecta

1 reference

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7 January 2021

Radiographic features of bisphosphonate therapy in pediatric patients

1 reference

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7 January 2021

Intravenous bisphosphonate therapy in children with osteogenesis imperfecta

1 reference

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7 January 2021

Treatment of children with Osteogenesis imperfecta in Estonia

1 reference

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7 January 2021

Bisphosphonates in children with osteogenesis imperfecta may improve bone mineralization but not bone strength. Report of two patients

1 reference

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7 January 2021

Skeletal structural adaptations to mechanical usage (SATMU): 1. Redefining Wolff's law: the bone modeling problem

1 reference

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7 January 2021

Skeletal structural adaptations to mechanical usage (SATMU): 2. Redefining Wolff's law: the remodeling problem

1 reference

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7 January 2021

Osteogenesis imperfecta after the menopause

1 reference

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7 January 2021

Bisphosphonates: from grandparents to grandchildren

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Quantitative morphometric evaluation of the inhibitory activity of new aminobisphosphonates on bone resorption in the rat.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Alendronate affects long bone length and growth plate morphology in the oim mouse model for Osteogenesis Imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Elimination and biochemical responses to intravenous alendronate in postmenopausal osteoporosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

A new model for the regulation of bone resorption, with particular reference to the effects of bisphosphonates

1 reference

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7 January 2021

Bisphosphonate-induced osteopetrosis

1 reference

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7 January 2021

Alendronate increases skeletal mass of growing rats during unloading by inhibiting resorption of calcified cartilage.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Structural Development of the Mineralized Tissue in the Human L4 Vertebral Body

1 reference

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7 January 2021

Targeted and nontargeted remodeling

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

On an Attempt to Treat Primary and Secondary Osteoporosis with Human Growth Hormone

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7 January 2021

Growth hormone treatment in osteogenesis imperfecta with quantitative defect of type I collagen synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Effect of growth hormone treatment on calcium kinetics in patients with osteogenesis imperfecta type III and IV.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Positive linear growth and bone responses to growth hormone treatment in children with types III and IV osteogenesis imperfecta: high predictive value of the carboxyterminal propeptide of type I procollagen

1 reference

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7 January 2021

Effect of parathyroid hormone (1-34) on fractures and bone mineral density in postmenopausal women with osteoporosis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Skeletal changes in rats given daily subcutaneous injections of recombinant human parathyroid hormone (1-34) for 2 years and relevance to human safety

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Recombinant human parathyroid hormone. Preclinical data on rat osteosarcoma were not dismissed

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Marrow stromal stem cells

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Mesenchymal stem cells: no longer second class marrow citizens

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Osteogenesis imperfecta calls for caution

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Osteogenesis imperfecta calls for caution

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Severe osteogenesis imperfecta: new therapeutic options?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Osteogenesis imperfecta: prospects for molecular therapeutics

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Hammerhead ribozymes selectively suppress mutant type I collagen mRNA in osteogenesis imperfecta fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Delivery of a hammerhead ribozyme specifically downregulates mutant type I collagen mRNA in a murine model of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

The chemical repertoire of natural ribozymes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

Human bone marrow stromal cells are efficiently transduced by vesicular stomatitis virus-pseudotyped retrovectors without affecting subsequent osteoblastic differentiation

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916051-0

7 January 2021

10.1016/S0140-6736(04)16051-0

Identifiers

DOI

1 reference

1 August 2017

1 reference