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Cold Spring Harbor molecular case studies

Showing results (291-300 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|May 6, 2016
Myeloid neoplasm demonstrating a STAT5B-RARA rearrangement and genetic alterations associated with all-trans retinoic acid resistance identified by a custom next-generation sequencing assayMichael J Kluk, Ryan P Abo, Ronald D Brown, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Whole-genome sequencing of a malignant granular cell tumor with metabolic response to pazopanibLei Wei, Song Liu, Jeffrey Conroy, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Democratization of genetic data: connecting government approval of clinical tests with data sharingTheodora S Ross
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemiaCharles Lu, Peter Riedell, Christopher A Miller, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencingJeremy D K Parker, Yaoqing Shen, Erin Pleasance, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseasesMarni J Falk, Lishuang Shen, Xiaowu Gai
Cold Spring Harbor Molecular Case Studies|January 7, 2018
A de novo nonsense mutation in <i>ASXL3</i> shared by siblings with Bainbridge-Ropers syndromeDaniel C Koboldt, Theresa Mihalic Mosher, Benjamin J Kelly, et al.
Cold Spring Harbor Molecular Case Studies|November 6, 2020
Novel de novo <i>ARCN1</i> intronic variant causes rhizomelic short stature with microretrognathia and developmental delayTimothy Tidwell, Malia Deshotel, Janice Palumbos, et al.
Pageof 48

Showing results (291-300 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Myeloid neoplasm demonstrating a STAT5B-RARA rearrangement and genetic alterations associated with all-trans retinoic acid resistance identified by a custom next-generation sequencing assayMichael J Kluk, Ryan P Abo, Ronald D Brown, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Whole-genome sequencing of a malignant granular cell tumor with metabolic response to pazopanibLei Wei, Song Liu, Jeffrey Conroy, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Democratization of genetic data: connecting government approval of clinical tests with data sharingTheodora S Ross
Cold Spring Harbor Molecular Case Studies|May 6, 2016
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delayHui Yang, Ganka Douglas, Kristin G Monaghan, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
A common founding clone with TP53 and PTEN mutations gives rise to a concurrent germ cell tumor and acute megakaryoblastic leukemiaCharles Lu, Peter Riedell, Christopher A Miller, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Molecular etiology of an indolent lymphoproliferative disorder determined by whole-genome sequencingJeremy D K Parker, Yaoqing Shen, Erin Pleasance, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial diseaseMugdha Joshi, Irina Anselm, Jiahai Shi, et al.
Cold Spring Harbor Molecular Case Studies|May 6, 2016
From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseasesMarni J Falk, Lishuang Shen, Xiaowu Gai
Cold Spring Harbor Molecular Case Studies|January 7, 2018
A de novo nonsense mutation in <i>ASXL3</i> shared by siblings with Bainbridge-Ropers syndromeDaniel C Koboldt, Theresa Mihalic Mosher, Benjamin J Kelly, et al.
Cold Spring Harbor Molecular Case Studies|November 6, 2020
Novel de novo <i>ARCN1</i> intronic variant causes rhizomelic short stature with microretrognathia and developmental delayTimothy Tidwell, Malia Deshotel, Janice Palumbos, et al.
Pageof 48