Clinical utility gene card for: osteogenesis imperfecta.

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Clinical utility gene card for: osteogenesis imperfecta.

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2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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Clinical utility gene card for: osteogenesis imperfecta.

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Clinical utility gene card for: osteogenesis imperfecta.

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Clinical utility gene card for: osteogenesis imperfecta.

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P1476

Clinical utility gene card for: osteogenesis imperfecta

@en

P2093

Agnieszka Rusinska

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Alessandra Maugeri

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Fleur S van Dijk

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Gerard Pals

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Sofie Symoens

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P2860

Genetic heterogeneity in osteogenesis imperfecta.

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.

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

Current and emerging treatments for the management of osteogenesis imperfecta.

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.

Osteogenesis Imperfecta: A Review with Clinical Examples.

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

Classification of Osteogenesis Imperfecta revisited.

New perspectives on osteogenesis imperfecta

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

P2888

ejhg.2012.210

P31

scholarly article

P356

10.1038/EJHG.2012.210

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P433

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P478

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P50

Fransiska Malfait

Oliver Semler

Raymond Dalgleish

P577

2012-09-26T00:00:00Z

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P5875

231210431

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P6179

1004847799

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P698

23010751

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P921

osteogenesis imperfecta

P932

3658202

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