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「"Glorieux FH "[Author]」の検索結果

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Skeletal clinical characteristics of osteogenesis imperfecta caused by haploinsufficiency mutations in COL1A1.

The muscle-bone relationship in X-linked hypophosphatemic rickets.

Mutations in WNT1 are a cause of osteogenesis imperfecta.

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

Standardized nomenclature, symbols, and units for bone histomorphometry.

Lack of Circulating Pigment Epithelium-Derived Factor Is a Marker of Osteogenesis Imperfecta Type VI.

A co-occurrence of osteogenesis imperfecta type VI and cystinosis.

Serum 24,25-dihydroxyvitamin D concentrations in osteogenesis imperfecta: relationship to bone parameters.

Low bone mass and high material bone density in two patients with Loeys-Dietz syndrome caused by transforming growth factor receptor 2 mutations.

Severe osteogenesis imperfecta caused by a small in-frame deletion in CRTAP.

Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

Predictors and correlates of vitamin D status in children and adolescents with osteogenesis imperfecta.

Mutations in SERPINF1 cause Osteogenesis imperfecta Type VI.

Relationship between vitamin D status and bone mineralization, mass, and metabolism in children with osteogenesis imperfecta: histomorphometric study.

Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.

Short- and long-term outcome of patients with pseudo-vitamin D deficiency rickets treated with calcitriol.

Cranial base abnormalities in osteogenesis imperfecta: phenotypic and genotypic determinants.

Wormian bones in osteogenesis imperfecta: Correlation to clinical findings and genotype.

Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

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