检索结果 - Michael Oldridge
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Paternal Origin of FGFR2 Mutations in Sporadic Cases of Crouzon Syndrome and Pfeiffer Syndrome 由 Rivka L. Glaser, Wen G. Jiang, Simeon A. Boyadjiev, A.K. Tran, Andrea A. Zachary, Lionel Van Maldergem, David Johnson, Sinéad Walsh, Michael Oldridge, Steven A. Wall, Andrew O.M. Wilkie, Ethylin Wang Jabs
出版 2000Artigo -
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A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1 由 David Johnson, Sharon W. Horsley, Dominique M. Moloney, Michael Oldridge, Stephen R.F. Twigg, Sinéad Walsh, Margaret Barrow, Pål R. Njølstad, Jürgen Kunz, Geraldine J. Ashworth, Steven A. Wall, Robert E. Kearney, Andrew O.M. Wilkie
出版 1998Artigo -
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De Novo Alu-Element Insertions in FGFR2 Identify a Distinct Pathological Basis for Apert Syndrome 由 Michael Oldridge, Elaine H. Zackai, Donna M. McDonald‐McGinn, Sachiko Iseki, Gillian Morriss‐Kay, Stephen R.F. Twigg, David Johnson, Steven A. Wall, Wen G. Jiang, Christiane Theda, Ethylin Wang Jabs, Andrew O.M. Wilkie
出版 1999Artigo
相关主题
Biology
Genetics
Gene
Craniosynostosis
Medicine
Endocrinology
Mutation
Receptor
Alu element
Apert syndrome
Brachydactyly
Exon
Genome
Human genome
Phenotype
Short stature
Syndactyly
Acetylcholine receptor
Chromosome
Congenital disease
Congenital myasthenic syndrome
Craniofacial
Crouzon syndrome
Dermatology
Dysostosis
Fibroblast growth factor
Fibroblast growth factor receptor
Fibroblast growth factor receptor 2
Frameshift mutation
Gene conversion