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Sowmya Jairam

Showing results (1-10 of 12) with videos related to

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Gene|June 28, 2014
An enhancer-blocking element regulates the cell-specific expression of alcohol dehydrogenase 7Sowmya Jairam, Howard J Edenberg
Alcoholism, Clinical and Experimental Research|February 12, 2014
Single-nucleotide polymorphisms interact to affect ADH7 transcriptionSowmya Jairam, Howard J Edenberg
Breast Cancer Research and Treatment|November 30, 2017
Characterization of a novel germline BRCA1 splice variant, c.5332+4delACiyu Yang, Sowmya Jairam, Kimberly A Amoroso, et al.
Breast Cancer Research and Treatment|September 27, 2018
A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancersCiyu Yang, Ozge Ceyhan-Birsoy, Diana Mandelker, et al.
American Journal of Hematology|September 30, 2017
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disordersEdward J Romasko, Batsal Devkota, Sawona Biswas, et al.
Molecular Diagnosis & Therapy|September 30, 2022
Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal AdenocarcinomaBinbin Zheng-Lin, Michael Rainone, Anna M Varghese, et al.
Genome Medicine|August 15, 2022
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patientsOzge Ceyhan-Birsoy, Gowtham Jayakumaran, Yelena Kemel, et al.
Journal of the National Cancer Institute|July 9, 2021
Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni SyndromeOzge Ceyhan-Birsoy, Pier Selenica, M Herman Chui, et al.
Human Mutation|August 25, 2019
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinomaLiying Zhang, Michael F Walsh, Sowmya Jairam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing lossSarah Sheppard, Sawona Biswas, Mindy H Li, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Gene|June 28, 2014
An enhancer-blocking element regulates the cell-specific expression of alcohol dehydrogenase 7Sowmya Jairam, Howard J Edenberg
Alcoholism, Clinical and Experimental Research|February 12, 2014
Single-nucleotide polymorphisms interact to affect ADH7 transcriptionSowmya Jairam, Howard J Edenberg
Breast Cancer Research and Treatment|November 30, 2017
Characterization of a novel germline BRCA1 splice variant, c.5332+4delACiyu Yang, Sowmya Jairam, Kimberly A Amoroso, et al.
Breast Cancer Research and Treatment|September 27, 2018
A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancersCiyu Yang, Ozge Ceyhan-Birsoy, Diana Mandelker, et al.
American Journal of Hematology|September 30, 2017
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disordersEdward J Romasko, Batsal Devkota, Sawona Biswas, et al.
Molecular Diagnosis & Therapy|September 30, 2022
Methylation Analyses Reveal Promoter Hypermethylation as a Rare Cause of "Second Hit" in Germline BRCA1-Associated Pancreatic Ductal AdenocarcinomaBinbin Zheng-Lin, Michael Rainone, Anna M Varghese, et al.
Genome Medicine|August 15, 2022
Diagnostic yield and clinical relevance of expanded genetic testing for cancer patientsOzge Ceyhan-Birsoy, Gowtham Jayakumaran, Yelena Kemel, et al.
Journal of the National Cancer Institute|July 9, 2021
Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni SyndromeOzge Ceyhan-Birsoy, Pier Selenica, M Herman Chui, et al.
Human Mutation|August 25, 2019
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinomaLiying Zhang, Michael F Walsh, Sowmya Jairam, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2018
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing lossSarah Sheppard, Sawona Biswas, Mindy H Li, et al.
Pageof 2