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Cold Spring Harbor molecular case studies

Showing results (421-430 of 479) with videos related to

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Cold Spring Harbor Molecular Case Studies|April 4, 2018
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencingAnna Schuh, Helene Dreau, Samantha J L Knight, et al.
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Journey from oncologist to cancer survivor and patient advocate in the era of precision medicineBurton M Needles
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected familiesMary Beth Campbell, Wesley C Campbell, James Rogers, et al.
Cold Spring Harbor Molecular Case Studies|April 27, 2018
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of <i>SOX9</i>Prince Antwi, Christopher S Hong, Daniel Duran, et al.
Cold Spring Harbor Molecular Case Studies|July 7, 2017
<i>SPG20</i> mutation in three siblings with familial hereditary spastic paraplegiaLeila Dardour, Filip Roelens, Valerie Race, et al.
Cold Spring Harbor Molecular Case Studies|July 7, 2017
An unusual genomic variant of pancreatic ductal adenocarcinoma with an indolent clinical courseZachary A Kohutek, Lauren M Rosati, Junguei Hong, et al.
Cold Spring Harbor Molecular Case Studies|June 1, 2018
Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypesJana Zernant, Winston Lee, Takayuki Nagasaki, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1</i> variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasisAmber Hildreth, Kristen Wigby, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|June 13, 2019
Genomic evolution of uveal melanoma arising in ocular melanocytosisMichael A Durante, Matthew G Field, Margaret I Sanchez, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Implementation of cancer next-generation sequencing testing in a community hospitalYassmine Akkari, Tamara Smith, Jennifer Westfall, et al.
Pageof 48

Showing results (421-430 of 479) with videos related to

Sort By:
Pageof 48
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencingAnna Schuh, Helene Dreau, Samantha J L Knight, et al.
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Journey from oncologist to cancer survivor and patient advocate in the era of precision medicineBurton M Needles
Cold Spring Harbor Molecular Case Studies|April 4, 2018
Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected familiesMary Beth Campbell, Wesley C Campbell, James Rogers, et al.
Cold Spring Harbor Molecular Case Studies|April 27, 2018
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of <i>SOX9</i>Prince Antwi, Christopher S Hong, Daniel Duran, et al.
Cold Spring Harbor Molecular Case Studies|July 7, 2017
<i>SPG20</i> mutation in three siblings with familial hereditary spastic paraplegiaLeila Dardour, Filip Roelens, Valerie Race, et al.
Cold Spring Harbor Molecular Case Studies|July 7, 2017
An unusual genomic variant of pancreatic ductal adenocarcinoma with an indolent clinical courseZachary A Kohutek, Lauren M Rosati, Junguei Hong, et al.
Cold Spring Harbor Molecular Case Studies|June 1, 2018
Extremely hypomorphic and severe deep intronic variants in the <i>ABCA4</i> locus result in varying Stargardt disease phenotypesJana Zernant, Winston Lee, Takayuki Nagasaki, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1</i> variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasisAmber Hildreth, Kristen Wigby, Shimul Chowdhury, et al.
Cold Spring Harbor Molecular Case Studies|June 13, 2019
Genomic evolution of uveal melanoma arising in ocular melanocytosisMichael A Durante, Matthew G Field, Margaret I Sanchez, et al.
Cold Spring Harbor Molecular Case Studies|June 5, 2019
Implementation of cancer next-generation sequencing testing in a community hospitalYassmine Akkari, Tamara Smith, Jennifer Westfall, et al.
Pageof 48