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Autism and heritable bone fragility: A true association?

Autism and heritable bone fragility: A true association?

http://www.wikidata.org/entity/Q55365302

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Autism and heritable bone fragility: A true association?

http://www.wikidata.org/entity/Q55365302

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2018 nî lūn-bûn

@nan

2018年の論文

@ja

2018年学术文章

@wuu

2018年学术文章

@zh-cn

2018年学术文章

@zh-hans

2018年学术文章

@zh-my

2018年学术文章

@zh-sg

2018年學術文章

@yue

2018年學術文章

@zh

2018年學術文章

@zh-hant

name

Autism and heritable bone fragility: A true association?

@en

Autism and heritable bone fragility: A true association?

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type

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Autism and heritable bone fragility: A true association?

@en

Autism and heritable bone fragility: A true association?

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prefLabel

Autism and heritable bone fragility: A true association?

@en

Autism and heritable bone fragility: A true association?

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J.BONR.2018.04.002

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Autism and heritable bone fragility: A true association?

@en

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Charlotte Marshall

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Elizabeth Milne

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Kath Smith

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Nicholas J Bishop

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Paul Arundel

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Rebecca Jones

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P2860

Genetic heterogeneity in osteogenesis imperfecta.

Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)

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

Diagnosing autism: analyses of data from the Autism Diagnostic Interview.

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.

Caffey disease: an unlikely collagenopathy.

Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

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156-162

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scholarly article

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10.1016/J.BONR.2018.04.002

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8

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Meena Balasubramanian

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2018-04-18T00:00:00Z

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29955634

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