检索结果 - Andrew Lane
- Showing 1 - 3 results of 3
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Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia 由 Claus‐Eric Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G. Brunner, Wim Brussel, Encarna Guillén‐Navarro, Claudia M. Haase, Juergen Kohlhase, Dieter Kotzot, Andrew Lane, Min Ae Lee‐Kirsch, Susanne Morlot, Marleen Simon, Elisabeth Steichen‐Gersdorf, David Tegay, Hartmut Peters, Stefan Mundlos, Eva Klopocki
出版 2010Artigo -
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Mutations in CEP57 cause mosaic variegated aneuploidy syndrome 由 Katie Snape, Sandra Hanks, Elise Ruark, Patricio Barros‐Núñez, Anna Elliott, Anne R. Murray, Andrew Lane, Nora Shannon, Patrick Callier, David Chitayat, Jill Clayton‐Smith, David Fitzpatrick, David Gisselsson, Sébastien Jacquemont, Keiko Asakura-Hay, Mark A. Micale, John Tolmie, Peter D. Turnpenny, Michael Wright, Jenny Douglas, Nazneen Rahman
出版 2011Artigo
相关主题
Biology
Gene
Genetics
Chromosome
Mutation
Anatomy
Aneuploidy
Archaeology
Calcium
Cleidocranial Dysplasia
Computational biology
Copy-number variation
Dysplasia
Endocrinology
Exome sequencing
Exon
Function (biology)
GNAS complex locus
Gene duplication
Genome
History
Internal medicine
Karyotype
Kinetochore
Loss function
Medicine
Mosaic
Multiplex ligation-dependent probe amplification
Parathyroid hormone
Phenotype