OpenURL Connection Search

Select item for more details and to access through your institution.

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 10, p. 2649, doi. 10.1002/ajmg.a.36679
By:
- Watson, Christopher M.;
- Crinnion, Laura A.;
- Tzika, Antigoni;
- Mills, Alison;
- Coates, Andrea;
- Pendlebury, Maria;
- Hewitt, Sarah;
- Harrison, Sally M.;
- Daly, Catherine;
- Roberts, Paul;
- Carr, Ian M.;
- Sheridan, Eamonn G.;
- Bonthron, David T.
Publication type:
Article
Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome.
Published in:
Human Mutation, 2013, v. 34, n. 6, p. 847, doi. 10.1002/humu.22311
By:
- Ingham, Danielle;
- Diggle, Christine P.;
- Berry, Ian;
- Bristow, Claire A.;
- Hayward, Bruce E.;
- Rahman, Nazneen;
- Markham, Alexander F.;
- Sheridan, Eamonn G.;
- Bonthron, David T.;
- Carr, Ian M.
Publication type:
Article
Identification of autosomal recessive disease loci using out-bred nuclear families.
Published in:
Human Mutation, 2012, v. 33, n. 2, p. 338, doi. 10.1002/humu.21645
By:
- Carr, Ian M.;
- Diggle, Christine P.;
- Touqan, Nader;
- Anwar, Rashida;
- Sheridan, Eamonn G.;
- Bonthron, David T.;
- Johnson, Colin A.;
- Ali, Manir;
- Markham, Alexander F.
Publication type:
Article
DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.
Published in:
Human Mutation, 2011, v. 32, n. 12, p. 1359, doi. 10.1002/humu.21597
By:
- Carr, Ian M.;
- Johnson, Colin A.;
- Markham, Alex F.;
- Toomes, Carmel;
- Bonthron, David T.;
- Sheridan, Eamonn G.
Publication type:
Article

Found: 4

Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.

Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome.

Identification of autosomal recessive disease loci using out-bred nuclear families.

DominantMapper: Rule-based analysis of SNP data for rapid mapping of dominant diseases in related nuclear families.