Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
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WHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA: A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH.Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort studyCesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfectaRecent Discoveries in Monogenic Disorders of Childhood Bone Fragility.Osteogenesis imperfecta in children and adolescents-new developments in diagnosis and treatment.Pediatric Osteoporosis: Diagnosis and Treatment Considerations.PLS3 Mutations in X-Linked Osteoporosis: Clinical and Bone Characteristics of Two Novel Mutations.Fracture Rates and Fracture Sites in Patients With Osteogenesis Imperfecta: A Nationwide Register-Based Cohort Study.Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patientsHeterogeneous nanomechanical properties of type I collagen in longitudinal direction.A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes.Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.Adults with osteogenesis imperfecta: Clinical characteristics of 151 patients with a focus on bisphosphonate use and bone density measurements.Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta
P2860
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P2860
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Genetic epidemiology, prevalen ...... with osteogenesis imperfecta.
@ast
Genetic epidemiology, prevalen ...... with osteogenesis imperfecta.
@en
type
label
Genetic epidemiology, prevalen ...... with osteogenesis imperfecta.
@ast
Genetic epidemiology, prevalen ...... with osteogenesis imperfecta.
@en
prefLabel
Genetic epidemiology, prevalen ...... with osteogenesis imperfecta.
@ast
Genetic epidemiology, prevalen ...... with osteogenesis imperfecta.
@en
P2093
P2860
P356
P1476
Genetic epidemiology, prevalen ...... with osteogenesis imperfecta.
@en
P2093
Andreas Kindmark
Barbro Malmgren
Carl-Johan Rubin
Eva Åström
Katarina Lindahl
P2860
P2888
P304
P356
10.1038/EJHG.2015.81
P577
2015-05-06T00:00:00Z