Torthaí cuardaigh - Angela O'Rawe
- 1 - 2 toradh as 2 á dtaispeáint
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1
Spectrum of Mutations in the Batten Disease Gene, CLN3 de réir Patricia B. Munroe, Hannah M. Mitchison, Angela O'Rawe, John W. Anderson, Rose-Mary Boustany, Terry J. Lerner, Peter E.M. Taschner, Nanneke de Vos, Martijn H. Breuning, R. Mark Gardiner, Sara Mole
Foilsithe / Cruthaithe 1997Artigo -
2
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity de réir J-L Blouin, Maggie Meeks, Uppala Radhakrishna, AJ Sainsbury, Chris Gehring, G Duriaux Saïl, Lucia Bartoloni, V H Dombi, Angela O'Rawe, Amanda J. Walne, E. Chung, BA Afzelius, M Armengot, Mark Jorissen, DV Schidlow, Lionel Van Maldergem, H. Walt, R M Gardiner, Daniela Probst, P A Guerne, CD Delozier-Blanchet, Stylianos E. Antonarakis
Foilsithe / Cruthaithe 2000Artigo
Uirlisí cuardaigh:
Ábhair a bhaineann le hábhar
Biology
Gene
Genetics
Medicine
Allele
Anatomy
Batten disease
Bronchiectasis
Compound heterozygosity
Disease
Gene mutation
Genetic heterogeneity
Genetic linkage
Internal medicine
Locus (genetics)
Lung
Missense mutation
Molecular biology
Mutation
Neurodegeneration
Neuronal ceroid lipofuscinosis
Nonsense mutation
Pathology
Phenotype
Primary ciliary dyskinesia
Situs inversus