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Cold Spring Harbor molecular case studies

Showing results (351-360 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|May 6, 2016
From "N of 1" to N of moreRalph J DeBerardinis, Elaine R Mardis
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Complete hematologic response of early T-cell progenitor acute lymphoblastic leukemia to the γ-secretase inhibitor BMS-906024: genetic and epigenetic findings in an outlier caseBirgit Knoechel, Ami Bhatt, Li Pan, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Metabolomics: an emerging but powerful tool for precision medicineClary B Clish
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresAkemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delayAyşegül Ozantürk, Erica E Davis, Aniko Sabo, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
California Dreamin': the Future of Genomic MedicineElaine R Mardis
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathyHung-Chun Yu, Curtis R Coughlin, Elizabeth A Geiger, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Prolonged survival and response to tepotinib in a non-small-cell lung cancer patient with brain metastases harboring <i>MET</i> exon 14 mutation: a research reportKatherine G Roth, Isa Mambetsariev, Ravi Salgia
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Isolated sulfite oxidase deficiency: a founder mutationAizeddin A Mhanni, Cheryl R Greenberg, Elizabeth L Spriggs, et al.
Cold Spring Harbor Molecular Case Studies|January 4, 2020
Molecular and clonal evolution in recurrent metastatic gliosarcomaKevin J Anderson, Aaron C Tan, Jonathon Parkinson, et al.
Pageof 48

Showing results (351-360 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|May 6, 2016
From "N of 1" to N of moreRalph J DeBerardinis, Elaine R Mardis
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Complete hematologic response of early T-cell progenitor acute lymphoblastic leukemia to the γ-secretase inhibitor BMS-906024: genetic and epigenetic findings in an outlier caseBirgit Knoechel, Ami Bhatt, Li Pan, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Metabolomics: an emerging but powerful tool for precision medicineClary B Clish
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial featuresAkemi J Tanaka, Megan T Cho, Kyle Retterer, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delayAyşegül Ozantürk, Erica E Davis, Aniko Sabo, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
California Dreamin': the Future of Genomic MedicineElaine R Mardis
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathyHung-Chun Yu, Curtis R Coughlin, Elizabeth A Geiger, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Prolonged survival and response to tepotinib in a non-small-cell lung cancer patient with brain metastases harboring <i>MET</i> exon 14 mutation: a research reportKatherine G Roth, Isa Mambetsariev, Ravi Salgia
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Isolated sulfite oxidase deficiency: a founder mutationAizeddin A Mhanni, Cheryl R Greenberg, Elizabeth L Spriggs, et al.
Cold Spring Harbor Molecular Case Studies|January 4, 2020
Molecular and clonal evolution in recurrent metastatic gliosarcomaKevin J Anderson, Aaron C Tan, Jonathon Parkinson, et al.
Pageof 48