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Sanjeev Bhaskar

Showing results (1-10 of 16) with videos related to

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BMC Clinical Pathology|April 11, 2015
A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencingGillian Ellison, Shuwen Huang, Hedley Carr, et al.
Human Mutation|October 24, 2012
Autozygosity mapping with exome sequence dataIan M Carr, Sanjeev Bhaskar, James O'Sullivan, et al.
Molecular Syndromology|October 23, 2014
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal ArthrogryposisSarah B Daly, Hitesh Shah, James O'Sullivan, et al.
Ophthalmology|August 24, 2014
Personalized diagnosis and management of congenital cataract by next-generation sequencingRachel L Gillespie, James O'Sullivan, Jane Ashworth, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.
Lancet (London, England)|May 20, 2015
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndromeJamie M Ellingford, Panagiotis I Sergouniotis, Rachel Lennon, et al.
European Journal of Medical Genetics|September 27, 2016
Non lethal Raine syndrome and differential diagnosisSiham Chafai Elalaoui, Nada Al-Sheqaih, Ilham Ratbi, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Validation of copy number variation analysis for next-generation sequencing diagnosticsJamie M Ellingford, Christopher Campbell, Stephanie Barton, et al.
Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.
Frontiers in Endocrinology|June 2, 2012
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientEleanor Raffan, Liam A Hurst, Saeed Al Turki, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
BMC Clinical Pathology|April 11, 2015
A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencingGillian Ellison, Shuwen Huang, Hedley Carr, et al.
Human Mutation|October 24, 2012
Autozygosity mapping with exome sequence dataIan M Carr, Sanjeev Bhaskar, James O'Sullivan, et al.
Molecular Syndromology|October 23, 2014
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal ArthrogryposisSarah B Daly, Hitesh Shah, James O'Sullivan, et al.
Ophthalmology|August 24, 2014
Personalized diagnosis and management of congenital cataract by next-generation sequencingRachel L Gillespie, James O'Sullivan, Jane Ashworth, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.
Lancet (London, England)|May 20, 2015
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndromeJamie M Ellingford, Panagiotis I Sergouniotis, Rachel Lennon, et al.
European Journal of Medical Genetics|September 27, 2016
Non lethal Raine syndrome and differential diagnosisSiham Chafai Elalaoui, Nada Al-Sheqaih, Ilham Ratbi, et al.
European Journal of Human Genetics : EJHG|April 6, 2017
Validation of copy number variation analysis for next-generation sequencing diagnosticsJamie M Ellingford, Christopher Campbell, Stephanie Barton, et al.
Journal of Medical Genetics|October 28, 2017
Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseasesJamie M Ellingford, Bradley Horn, Christopher Campbell, et al.
Frontiers in Endocrinology|June 2, 2012
Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical PatientEleanor Raffan, Liam A Hurst, Saeed Al Turki, et al.
Pageof 2