Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays-Reference-Cited by-同舟云学术

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

Published:2011-09-19 Issue:12 Volume:32 Page:1500-1506
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Bruno Damien L.,Stark Zornitza,Amor David J.,Burgess Trent,Butler Kathy,Corrie Sylvea,Francis David,Ganesamoorthy Devika,Hills Louise,James Paul A.,O'Rielly Darren,Oertel Ralph,Savarirayan Ravi,Prabhakara Krishnamurthy,Salce Nicholas,Slater Howard R.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. Detection of clinically relevant exonic copy-number changes by array CGH;Boone;Hum Mutat,2010

4. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4;Brockschmidt;Hum Mol Genet,2007

5. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome;Chandler;J Med Genet,2003

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