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Cold Spring Harbor molecular case studies

Showing results (331-340 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|December 1, 2016
Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment responseRomi Biswas, Shaojian Gao, Constance M Cultraro, et al.
Cold Spring Harbor Molecular Case Studies|July 15, 2022
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathyAles Maver, Tamara Zigman, Ashraf Yusuf Rangrez, et al.
Cold Spring Harbor Molecular Case Studies|April 15, 2022
9p21.3 Microdeletion involving <i>CDKN2A/2B</i> in a young patient with multiple primary cancers and review of the literatureMarlene Richter Jensen, Ulrik Stoltze, Thomas Van Overeem Hansen, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology caseGloria T Haskell, Mari Mori, Cynthia Powell, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemiaMonica Khurana, Donna Edwards, Frederic Rescorla, et al.
Cold Spring Harbor Molecular Case Studies|June 13, 2018
Clonal dynamics of donor-derived myelodysplastic syndrome after unrelated hematopoietic cell transplantation for high-risk pediatric B-lymphoblastic leukemiaJason R Schwartz, Michael P Walsh, Jing Ma, et al.
Cold Spring Harbor Molecular Case Studies|November 14, 2022
Identification of a novel large multigene deletion and a frameshift indel in <i>PDE6B</i> as the underlying cause of early-onset recessive rod-cone degenerationRiccardo Sangermano, Pooja Biswas, Lori S Sullivan, et al.
Cold Spring Harbor Molecular Case Studies|June 20, 2020
A germline <i>PALB2</i> pathogenic variant identified in a pediatric high-grade gliomaYiming Zhong, Jeffrey Schubert, Jinhua Wu, et al.
Cold Spring Harbor Molecular Case Studies|August 31, 2021
Genetic and transcriptomic analyses in a rare case of human papillomavirus-related oropharyngeal squamous-cell carcinoma combined with small-cell carcinomaKuniaki Sato, Kazuo Nishiyama, Kenichi Taguchi, et al.
Cold Spring Harbor Molecular Case Studies|December 5, 2023
Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data CommonsKyle M Hernandez, Aarti Venkat, Danne C Elbers, et al.
Pageof 48

Showing results (331-340 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment responseRomi Biswas, Shaojian Gao, Constance M Cultraro, et al.
Cold Spring Harbor Molecular Case Studies|July 15, 2022
A biallelic loss-of-function variant in MYZAP is associated with a recessive form of severe dilated cardiomyopathyAles Maver, Tamara Zigman, Ashraf Yusuf Rangrez, et al.
Cold Spring Harbor Molecular Case Studies|April 15, 2022
9p21.3 Microdeletion involving <i>CDKN2A/2B</i> in a young patient with multiple primary cancers and review of the literatureMarlene Richter Jensen, Ulrik Stoltze, Thomas Van Overeem Hansen, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology caseGloria T Haskell, Mari Mori, Cynthia Powell, et al.
Cold Spring Harbor Molecular Case Studies|October 3, 2018
Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemiaMonica Khurana, Donna Edwards, Frederic Rescorla, et al.
Cold Spring Harbor Molecular Case Studies|June 13, 2018
Clonal dynamics of donor-derived myelodysplastic syndrome after unrelated hematopoietic cell transplantation for high-risk pediatric B-lymphoblastic leukemiaJason R Schwartz, Michael P Walsh, Jing Ma, et al.
Cold Spring Harbor Molecular Case Studies|November 14, 2022
Identification of a novel large multigene deletion and a frameshift indel in <i>PDE6B</i> as the underlying cause of early-onset recessive rod-cone degenerationRiccardo Sangermano, Pooja Biswas, Lori S Sullivan, et al.
Cold Spring Harbor Molecular Case Studies|June 20, 2020
A germline <i>PALB2</i> pathogenic variant identified in a pediatric high-grade gliomaYiming Zhong, Jeffrey Schubert, Jinhua Wu, et al.
Cold Spring Harbor Molecular Case Studies|August 31, 2021
Genetic and transcriptomic analyses in a rare case of human papillomavirus-related oropharyngeal squamous-cell carcinoma combined with small-cell carcinomaKuniaki Sato, Kazuo Nishiyama, Kenichi Taguchi, et al.
Cold Spring Harbor Molecular Case Studies|December 5, 2023
Prostate cancer patient stratification by molecular signatures in the Veterans Precision Oncology Data CommonsKyle M Hernandez, Aarti Venkat, Danne C Elbers, et al.
Pageof 48