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Reuben J Pengelly

Showing results (31-40 of 43) with videos related to

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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 DeficiencyKesava 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 inhibitorsCarol 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 SkinAmel 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 changesLatha Kadalayil, Sajjad Rafiq, Matthew J J Rose-Zerilli, et al.
The Journal of Allergy and Clinical Immunology|December 12, 2017
Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutationKesava A Ramakrishnan, William Rae, Gabriela Barcenas-Morales, 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 StatusJane 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 microcephalyReuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, et al.
BMC Nephrology|November 1, 2018
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney diseaseChristine Gast, Anthony Marinaki, Monica Arenas-Hernandez, et al.
Clinical Epigenetics|October 20, 2023
Pharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cellsEleanor O'Brien, Carmen Tse, Ian Tracy, et al.
Nature Communications|January 12, 2020
Cold-induced urticarial autoinflammatory syndrome related to factor XII activationJörg Scheffel, Niklas A Mahnke, Zonne L M Hofman, et al.
Pageof 5

Showing results (31-40 of 43) with videos related to

Sort By:
Pageof 5
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 DeficiencyKesava 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 inhibitorsCarol 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 SkinAmel 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 changesLatha Kadalayil, Sajjad Rafiq, Matthew J J Rose-Zerilli, et al.
The Journal of Allergy and Clinical Immunology|December 12, 2017
Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutationKesava A Ramakrishnan, William Rae, Gabriela Barcenas-Morales, 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 StatusJane 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 microcephalyReuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, et al.
BMC Nephrology|November 1, 2018
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney diseaseChristine Gast, Anthony Marinaki, Monica Arenas-Hernandez, et al.
Clinical Epigenetics|October 20, 2023
Pharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cellsEleanor O'Brien, Carmen Tse, Ian Tracy, et al.
Nature Communications|January 12, 2020
Cold-induced urticarial autoinflammatory syndrome related to factor XII activationJörg Scheffel, Niklas A Mahnke, Zonne L M Hofman, et al.
Pageof 5