Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

Bruno, D. L., White, S. M., Ganesamoorthy, D., Burgess, T., Butler, K., Corrie, S., Francis, D., Hills, L., Prabhakara, K., Ngo, C., Norris, F., Oertel, R., Pertile, M. D., Stark, Z., Amor, D. J. and Slater, H. R. (2011) Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping. Journal of Medical Genetics, 48 12: 831-839. doi:10.1136/jmedgenet-2011-100372


Author Bruno, D. L.
White, S. M.
Ganesamoorthy, D.
Burgess, T.
Butler, K.
Corrie, S.
Francis, D.
Hills, L.
Prabhakara, K.
Ngo, C.
Norris, F.
Oertel, R.
Pertile, M. D.
Stark, Z.
Amor, D. J.
Slater, H. R.
Title Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
Journal name Journal of Medical Genetics   Check publisher's open access policy
ISSN 0022-2593
Publication date 2011
Year available 2011
Sub-type Article (original research)
DOI 10.1136/jmedgenet-2011-100372
Open Access Status
Volume 48
Issue 12
Start page 831
End page 839
Total pages 9
Place of publication London, United Kingdom
Publisher B M J Group
Collection year 2011
Language eng
Subject 1311 Genetics
2716 Genetics (clinical)
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
 
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