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BMC Bioinformatics
|
July 21, 2014
Variant detection sensitivity and biases in whole genome and exome sequencing
Alison M Meynert, Morad Ansari, David R FitzPatrick, et al.
BMC Bioinformatics
|
June 19, 2013
Quantifying single nucleotide variant detection sensitivity in exome sequencing
Alison M Meynert, Louise S Bicknell, Matthew E Hurles, et al.
Molecular Genetics & Genomic Medicine
|
August 1, 2014
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
Mark T Handley, André Mégarbané, Alison M Meynert, et al.
American Journal of Obstetrics and Gynecology
|
May 6, 2019
Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse
Robert L Hollis, Juliet Carmichael, Alison M Meynert, et al.
BMC Cancer
|
January 5, 2018
Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations
Robert L Hollis, Alison M Meynert, Michael Churchman, et al.
NPJ Precision Oncology
|
June 3, 2021
Integrated molecular characterisation of endometrioid ovarian carcinoma identifies opportunities for stratification
Robert L Hollis, Barbara Stanley, John P Thomson, et al.
Nature Communications
|
October 6, 2020
Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome
Robert L Hollis, John P Thomson, Barbara Stanley, et al.
Investigative Ophthalmology & Visual Science
|
January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature
Rachel L Taylor, Mark T Handley, Sarah Waller, et al.
Scientific Reports
|
July 31, 2019
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Shona M Kerr, Lucija Klaric, Mihail Halachev, et al.
BMC Genomics
|
May 24, 2007
CAG-encoded polyglutamine length polymorphism in the human genome
Stefanie L Butland, Rebecca S Devon, Yong Huang, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 16) with videos related to
Sort By:
Page
of 2
BMC Bioinformatics
|
July 21, 2014
Variant detection sensitivity and biases in whole genome and exome sequencing
Alison M Meynert, Morad Ansari, David R FitzPatrick, et al.
BMC Bioinformatics
|
June 19, 2013
Quantifying single nucleotide variant detection sensitivity in exome sequencing
Alison M Meynert, Louise S Bicknell, Matthew E Hurles, et al.
Molecular Genetics & Genomic Medicine
|
August 1, 2014
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome
Mark T Handley, André Mégarbané, Alison M Meynert, et al.
American Journal of Obstetrics and Gynecology
|
May 6, 2019
Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse
Robert L Hollis, Juliet Carmichael, Alison M Meynert, et al.
BMC Cancer
|
January 5, 2018
Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations
Robert L Hollis, Alison M Meynert, Michael Churchman, et al.
NPJ Precision Oncology
|
June 3, 2021
Integrated molecular characterisation of endometrioid ovarian carcinoma identifies opportunities for stratification
Robert L Hollis, Barbara Stanley, John P Thomson, et al.
Nature Communications
|
October 6, 2020
Molecular stratification of endometrioid ovarian carcinoma predicts clinical outcome
Robert L Hollis, John P Thomson, Barbara Stanley, et al.
Investigative Ophthalmology & Visual Science
|
January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature
Rachel L Taylor, Mark T Handley, Sarah Waller, et al.
Scientific Reports
|
July 31, 2019
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Shona M Kerr, Lucija Klaric, Mihail Halachev, et al.
BMC Genomics
|
May 24, 2007
CAG-encoded polyglutamine length polymorphism in the human genome
Stefanie L Butland, Rebecca S Devon, Yong Huang, et al.
Page
of 2