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Steven E Brenner

Showing results (101-110 of 166) with videos related to

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Cell Reports|June 30, 2021
Revealing molecular pathways for cancer cell fitness through a genetic screen of the cancer translatomeDuygu Kuzuoglu-Ozturk, Zhiqiang Hu, Martina Rama, et al.
Plos Genetics|June 23, 2009
Genome-wide identification of alternative splice forms down-regulated by nonsense-mediated mRNA decay in DrosophilaKasper Daniel Hansen, Liana F Lareau, Marco Blanchette, et al.
Genome Research|August 22, 2015
Regulation of alternative splicing in Drosophila by 56 RNA binding proteinsAngela N Brooks, Michael O Duff, Gemma May, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
International Journal of Neonatal Screening|August 18, 2020
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future SequencingAashish N Adhikari, Robert J Currier, Hao Tang, et al.
Journal of Clinical Immunology|January 29, 2015
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantationDivya Punwani, Haopeng Wang, Alice Y Chan, et al.
The Journal of Experimental Medicine|January 20, 2016
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70Alice Y Chan, Divya Punwani, Theresa A Kadlecek, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Pageof 17

Showing results (101-110 of 166) with videos related to

Sort By:
Pageof 17
Cell Reports|June 30, 2021
Revealing molecular pathways for cancer cell fitness through a genetic screen of the cancer translatomeDuygu Kuzuoglu-Ozturk, Zhiqiang Hu, Martina Rama, et al.
Plos Genetics|June 23, 2009
Genome-wide identification of alternative splice forms down-regulated by nonsense-mediated mRNA decay in DrosophilaKasper Daniel Hansen, Liana F Lareau, Marco Blanchette, et al.
Genome Research|August 22, 2015
Regulation of alternative splicing in Drosophila by 56 RNA binding proteinsAngela N Brooks, Michael O Duff, Gemma May, et al.
Medrxiv : the Preprint Server for Health Sciences|March 18, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
International Journal of Neonatal Screening|August 18, 2020
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future SequencingAashish N Adhikari, Robert J Currier, Hao Tang, et al.
Journal of Clinical Immunology|January 29, 2015
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantationDivya Punwani, Haopeng Wang, Alice Y Chan, et al.
The Journal of Experimental Medicine|January 20, 2016
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70Alice Y Chan, Divya Punwani, Theresa A Kadlecek, et al.
Biorxiv : the Preprint Server for Biology|September 30, 2024
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 14, 2025
Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteriaTimothy Bergquist, Sarah L Stenton, Emily A W Nadeau, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 20, 2024
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendationsSarah L Stenton, Vikas Pejaver, Timothy Bergquist, et al.
Pageof 17