検索結果 - Alison Taylor‐Beadling
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ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome 著者: Graeme E. Glass, Justine O’Hara, Natalie Canham, Deirdre Cilliers, David Dunaway, Aimée L Fenwick, Owase Jeelani, David Johnson, Tracy Lester, Helen Lord, Jenny E.V. Morton, Hiroshi Nishikawa, Peter Noons, Kemmy Schwiebert, Caroleen Shipster, Alison Taylor‐Beadling, Stephen R.F. Twigg, Pradeep Vasudevan, Steven A. Wall, Andrew O.M. Wilkie, Louise C. Wilson
出版事項 2019Artigo
関連主題
Biology
Genetics
Cholesterol
Computational biology
Gene
Medicine
Mutation
Anatomy
Biochemistry
Bioinformatics
Chiari malformation
Computer science
Congenital disease
Craniosynostosis
Database
Dysostosis
Familial hypercholesterolemia
Genetic testing
Hypertelorism
Hypoplasia
In silico
Internal medicine
LDL receptor
Lipoprotein
Magnetic resonance imaging
Microbiology
Missense mutation
Nonsense
Pathogenicity
Pediatrics