Rare disorders have many faces: in silico characterization of rare disorder spectrum

被引：0

作者：

Simona D. Frederiksen

Vladimir Avramović

Tatiana Maroilley

Anna Lehman

Laura Arbour

Maja Tarailo-Graovac

机构：

[1] University of Calgary,Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine

[2] University of Calgary,Alberta Children’s Hospital Research Institute

[3] University of British Columbia,Department of Medical Genetics

来源：

Orphanet Journal of Rare Diseases | / 17卷

关键词：

Borderline-common; Diagnostics; Pipelines; Developmental defect; Neurological; Causative genes; Phenotypes; Pathway analysis; Orphanet;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 232 条

[81]

Tuke M(undefined)undefined undefined undefined undefined-undefined

[82]

Jones SE(undefined)undefined undefined undefined undefined-undefined

[83]

Patel K(undefined)undefined undefined undefined undefined-undefined

[84]

Laver TW(undefined)undefined undefined undefined undefined-undefined

[85]

Kousi M(undefined)undefined undefined undefined undefined-undefined

[86]

Katsanis N(undefined)undefined undefined undefined undefined-undefined

[87]

Gazzo AM(undefined)undefined undefined undefined undefined-undefined

[88]

Daneels D(undefined)undefined undefined undefined undefined-undefined

[89]

Cilia E(undefined)undefined undefined undefined undefined-undefined

[90]

Bonduelle M(undefined)undefined undefined undefined undefined-undefined