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Clinical Genetics
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October 28, 2017
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics
W Rae, D Ward, C Mattocks, et al.
Clinical Genetics
|
December 3, 2014
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing
R J Pengelly, R Upstill-Goddard, L Arias, et al.
Inflammatory Bowel Diseases
|
August 30, 2014
Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genes
Tracy Coelho, Gaia Andreoletti, James J Ashton, et al.
The Journal of Molecular Diagnostics : JMD
|
June 25, 2018
Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei
Reuben J Pengelly, Babatunde Rowaiye, Karen Pickard, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
October 7, 2016
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency
Kesava A Ramakrishnan, Reuben J Pengelly, Yifang Gao, et al.
Journal of Biomolecular Screening
|
May 11, 2012
Fragment screening using capillary electrophoresis (CEfrag) for hit identification of heat shock protein 90 ATPase inhibitors
Carol Austin, Simon N Pettit, Sharon K Magnolo, et al.
The Journal of Investigative Dermatology
|
August 29, 2017
Subclonal Evolution of Cancer-Related Gene Mutations in p53 Immunopositive Patches in Human Skin
Amel A Albibas, Matthew J J Rose-Zerilli, Chester Lai, et al.
Briefings in Bioinformatics
|
August 30, 2014
Exome sequence read depth methods for identifying copy number changes
Latha Kadalayil, Sajjad Rafiq, Matthew J J Rose-Zerilli, et al.
Cancer Medicine
|
October 22, 2024
Targeted Genetic Sequencing Analysis of 223 Cases of Pseudomyxoma Peritonei Treated by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Shows Survival Related to GNAS and KRAS Status
Jane Gibson, Reuben J Pengelly, Amatta Mirandari, et al.
Journal of Medical Genetics
|
July 16, 2016
Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly
Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, et al.
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of 5
Search research articles
Search
Showing results (31-40 of 47) with videos related to
Sort By:
Page
of 5
Clinical Genetics
|
October 28, 2017
Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics
W Rae, D Ward, C Mattocks, et al.
Clinical Genetics
|
December 3, 2014
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing
R J Pengelly, R Upstill-Goddard, L Arias, et al.
Inflammatory Bowel Diseases
|
August 30, 2014
Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genes
Tracy Coelho, Gaia Andreoletti, James J Ashton, et al.
The Journal of Molecular Diagnostics : JMD
|
June 25, 2018
Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei
Reuben J Pengelly, Babatunde Rowaiye, Karen Pickard, et al.
The Journal of Allergy and Clinical Immunology. in Practice
|
October 7, 2016
Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency
Kesava A Ramakrishnan, Reuben J Pengelly, Yifang Gao, et al.
Journal of Biomolecular Screening
|
May 11, 2012
Fragment screening using capillary electrophoresis (CEfrag) for hit identification of heat shock protein 90 ATPase inhibitors
Carol Austin, Simon N Pettit, Sharon K Magnolo, et al.
The Journal of Investigative Dermatology
|
August 29, 2017
Subclonal Evolution of Cancer-Related Gene Mutations in p53 Immunopositive Patches in Human Skin
Amel A Albibas, Matthew J J Rose-Zerilli, Chester Lai, et al.
Briefings in Bioinformatics
|
August 30, 2014
Exome sequence read depth methods for identifying copy number changes
Latha Kadalayil, Sajjad Rafiq, Matthew J J Rose-Zerilli, et al.
Cancer Medicine
|
October 22, 2024
Targeted Genetic Sequencing Analysis of 223 Cases of Pseudomyxoma Peritonei Treated by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Shows Survival Related to GNAS and KRAS Status
Jane Gibson, Reuben J Pengelly, Amatta Mirandari, et al.
Journal of Medical Genetics
|
July 16, 2016
Mutations specific to the Rac-GEF domain of <i>TRIO</i> cause intellectual disability and microcephaly
Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, et al.
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of 5