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Cold Spring Harbor molecular case studies

Showing results (31-40 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|February 14, 2018
Genome sequencing identifies somatic <i>BRAF</i> duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade gangliogliomaKatherine E Miller, Benjamin Kelly, James Fitch, et al.
Cold Spring Harbor Molecular Case Studies|February 17, 2018
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosityLorena P Suarez-Kelly, Keiko Akagi, Julie W Reeser, et al.
Cold Spring Harbor Molecular Case Studies|November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhageBenjamin Briggs, Kiely N James, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic featuresEmily Webster, Megan T Cho, Nora Alexander, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1Eric Delpire, Lynne Wolfe, Bianca Flores, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Rapid access to genetic discoveries underlying human diseaseHeidi L Rehm
Cold Spring Harbor Molecular Case Studies|April 3, 2019
Precision oncogenomicsAndrea Ferreira-Gonzalez, Elaine R Mardis
Cold Spring Harbor Molecular Case Studies|August 25, 2019
A novel <i>PAK3</i> pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literatureAritoshi Iida, Kyoko Takano, Eri Takeshita, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2019
Genomic testing in pediatric epilepsyDrew M Thodeson, Jason Y Park
Cold Spring Harbor Molecular Case Studies|May 7, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experienceCecelia R Miller, Kristy Lee, Ruthann B Pfau, et al.
Pageof 48

Showing results (31-40 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Genome sequencing identifies somatic <i>BRAF</i> duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade gangliogliomaKatherine E Miller, Benjamin Kelly, James Fitch, et al.
Cold Spring Harbor Molecular Case Studies|February 17, 2018
Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosityLorena P Suarez-Kelly, Keiko Akagi, Julie W Reeser, et al.
Cold Spring Harbor Molecular Case Studies|November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhageBenjamin Briggs, Kiely N James, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
De novo <i>PHIP</i>-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic featuresEmily Webster, Megan T Cho, Nora Alexander, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
A patient with multisystem dysfunction carries a truncation mutation in human <i>SLC12A2</i>, the gene encoding the Na-K-2Cl cotransporter, NKCC1Eric Delpire, Lynne Wolfe, Bianca Flores, et al.
Cold Spring Harbor Molecular Case Studies|December 1, 2016
Rapid access to genetic discoveries underlying human diseaseHeidi L Rehm
Cold Spring Harbor Molecular Case Studies|April 3, 2019
Precision oncogenomicsAndrea Ferreira-Gonzalez, Elaine R Mardis
Cold Spring Harbor Molecular Case Studies|August 25, 2019
A novel <i>PAK3</i> pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literatureAritoshi Iida, Kyoko Takano, Eri Takeshita, et al.
Cold Spring Harbor Molecular Case Studies|August 3, 2019
Genomic testing in pediatric epilepsyDrew M Thodeson, Jason Y Park
Cold Spring Harbor Molecular Case Studies|May 7, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experienceCecelia R Miller, Kristy Lee, Ruthann B Pfau, et al.
Pageof 48