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Cold Spring Harbor molecular case studies

Showing results (71-80 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|October 15, 2021
Identification of a recurrent mosaic <i>KRAS</i> variant in brain tissue from an individual with nevus sebaceous syndromeTimothy E Green, Duncan MacGregor, Susan M Carden, et al.
Cold Spring Harbor Molecular Case Studies|February 26, 2022
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classificationIngeborg Hauth, Hans R Waterham, Ronald J A Wanders, et al.
Cold Spring Harbor Molecular Case Studies|February 26, 2022
2022: a pivotal year for diagnosis and treatment of rare genetic diseasesStephen F Kingsmore
Cold Spring Harbor Molecular Case Studies|February 26, 2022
Toward transcriptomics as a primary tool for rare disease investigationStephen B Montgomery, Jonathan A Bernstein, Matthew T Wheeler
Cold Spring Harbor Molecular Case Studies|March 25, 2022
Rare diseases: human genome research is coming homeHans-Hilger Ropers, Clara D van Karnebeek
Cold Spring Harbor Molecular Case Studies|June 5, 2019
A case study of a long-term glioblastoma survivor with unmethylated <i>MGMT</i> and hypermutated genotypeToni Rose Jue, Lauren R Olafson, Anna H Siddell, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Genomic characterization of a well-differentiated grade 3 pancreatic neuroendocrine tumorLaura M Williamson, Michael Steel, Jasleen K Grewal, et al.
Cold Spring Harbor Molecular Case Studies|June 15, 2019
Neonatal diabetes mellitus due to a novel variant in the <i>INS</i> geneSarah E Laurenzano, Cory McFall, Linda Nguyen, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Novel biallelic variants in <i>MSTO1</i> associated with mitochondrial myopathyLaura Schultz-Rogers, Alejandro Ferrer, Nikita R Dsouza, et al.
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinomaRebecca Ronsley, S Rod Rassekh, Yaoqing Shen, et al.
Pageof 48

Showing results (71-80 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|October 15, 2021
Identification of a recurrent mosaic <i>KRAS</i> variant in brain tissue from an individual with nevus sebaceous syndromeTimothy E Green, Duncan MacGregor, Susan M Carden, et al.
Cold Spring Harbor Molecular Case Studies|February 26, 2022
A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classificationIngeborg Hauth, Hans R Waterham, Ronald J A Wanders, et al.
Cold Spring Harbor Molecular Case Studies|February 26, 2022
2022: a pivotal year for diagnosis and treatment of rare genetic diseasesStephen F Kingsmore
Cold Spring Harbor Molecular Case Studies|February 26, 2022
Toward transcriptomics as a primary tool for rare disease investigationStephen B Montgomery, Jonathan A Bernstein, Matthew T Wheeler
Cold Spring Harbor Molecular Case Studies|March 25, 2022
Rare diseases: human genome research is coming homeHans-Hilger Ropers, Clara D van Karnebeek
Cold Spring Harbor Molecular Case Studies|June 5, 2019
A case study of a long-term glioblastoma survivor with unmethylated <i>MGMT</i> and hypermutated genotypeToni Rose Jue, Lauren R Olafson, Anna H Siddell, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Genomic characterization of a well-differentiated grade 3 pancreatic neuroendocrine tumorLaura M Williamson, Michael Steel, Jasleen K Grewal, et al.
Cold Spring Harbor Molecular Case Studies|June 15, 2019
Neonatal diabetes mellitus due to a novel variant in the <i>INS</i> geneSarah E Laurenzano, Cory McFall, Linda Nguyen, et al.
Cold Spring Harbor Molecular Case Studies|October 13, 2019
Novel biallelic variants in <i>MSTO1</i> associated with mitochondrial myopathyLaura Schultz-Rogers, Alejandro Ferrer, Nikita R Dsouza, et al.
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinomaRebecca Ronsley, S Rod Rassekh, Yaoqing Shen, et al.
Pageof 48