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Cold Spring Harbor molecular case studies

Showing results (1-10 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|December 28, 2022
Case report: olaparib use in metastatic lung adenocarcinoma with <i>BRCA2</i> pathogenic variantJonathan Soon Jian Hao, Chan Sock Hoai, Daniel Tan Shao Weng, et al.
Cold Spring Harbor Molecular Case Studies|June 22, 2022
Expanding the phenotype of <i>ATP6AP1</i> deficiencySubit Barua, Sara Berger, Elaine M Pereira, et al.
Cold Spring Harbor Molecular Case Studies|June 29, 2022
EWSR1-TFCP2 in an adolescent represents an extremely rare and aggressive form of intraosseous spindle cell rhabdomyosarcomasAgnesa Panferova, Kseniya Yu Sinichenkova, Meriam Abu Jabal, et al.
Cold Spring Harbor Molecular Case Studies|November 28, 2022
Characterization of a novel deep-intronic variant in <i>DYNC2H1</i> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Patrick J Gillespie, Kayla Treat, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Acute myeloid leukemia with an <i>MN1-ETV6</i> fusion in a young child with Down syndromeJaclyn Rosenzweig, Pallavi M Pillai, Susan Prockop, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Tumor-immune microenvironment revealed by Imaging Mass Cytometry in a metastatic sarcomatoid urothelial carcinoma with a prolonged response to pembrolizumabHussein Alnajar, Hiranmayi Ravichandran, André Figueiredo Rendeiro, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Prolonged response to checkpoint inhibitor therapy in two metastatic mucoepidermoid salivary gland carcinoma cases: a research reportRebecca R Pharaon, Thomas Gernon, Sue Chang, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipelineLaura T Jiménez-Barrón, Jason A O'Rawe, Yiyang Wu, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyYizhou Ye, Megan T Cho, Kyle Retterer, et al.
Pageof 48

Showing results (1-10 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|December 28, 2022
Case report: olaparib use in metastatic lung adenocarcinoma with <i>BRCA2</i> pathogenic variantJonathan Soon Jian Hao, Chan Sock Hoai, Daniel Tan Shao Weng, et al.
Cold Spring Harbor Molecular Case Studies|June 22, 2022
Expanding the phenotype of <i>ATP6AP1</i> deficiencySubit Barua, Sara Berger, Elaine M Pereira, et al.
Cold Spring Harbor Molecular Case Studies|June 29, 2022
EWSR1-TFCP2 in an adolescent represents an extremely rare and aggressive form of intraosseous spindle cell rhabdomyosarcomasAgnesa Panferova, Kseniya Yu Sinichenkova, Meriam Abu Jabal, et al.
Cold Spring Harbor Molecular Case Studies|November 28, 2022
Characterization of a novel deep-intronic variant in <i>DYNC2H1</i> identified by whole-exome sequencing in a patient with a lethal form of a short-rib thoracic dysplasia type IIIMuqsit Buchh, Patrick J Gillespie, Kayla Treat, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Acute myeloid leukemia with an <i>MN1-ETV6</i> fusion in a young child with Down syndromeJaclyn Rosenzweig, Pallavi M Pillai, Susan Prockop, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Tumor-immune microenvironment revealed by Imaging Mass Cytometry in a metastatic sarcomatoid urothelial carcinoma with a prolonged response to pembrolizumabHussein Alnajar, Hiranmayi Ravichandran, André Figueiredo Rendeiro, et al.
Cold Spring Harbor Molecular Case Studies|April 28, 2022
Prolonged response to checkpoint inhibitor therapy in two metastatic mucoepidermoid salivary gland carcinoma cases: a research reportRebecca R Pharaon, Thomas Gernon, Sue Chang, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo mutations in PURA are associated with hypotonia and developmental delayAkemi J Tanaka, Renkui Bai, Megan T Cho, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipelineLaura T Jiménez-Barrón, Jason A O'Rawe, Yiyang Wu, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephalyYizhou Ye, Megan T Cho, Kyle Retterer, et al.
Pageof 48