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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 sequencing
Anna Schuh, Helene Dreau, Samantha J L Knight, et al.
Human Molecular Genetics
|
August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
Biljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 2, 2018
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
Pauline Robbe, Niko Popitsch, Samantha J L Knight, et al.
Genome Medicine
|
November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.
Nature Genetics
|
May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C Taylor, Hilary C Martin, Stefano Lise, et al.
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Search research articles
Search
Showing results (41-50 of 45) with videos related to
Sort By:
Page
of 5
You have reached the last page of results.
This site can display upto 45 results.
Cold Spring Harbor Molecular Case Studies
|
April 4, 2018
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing
Anna Schuh, Helene Dreau, Samantha J L Knight, et al.
Human Molecular Genetics
|
August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies
Biljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 2, 2018
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project
Pauline Robbe, Niko Popitsch, Samantha J L Knight, et al.
Genome Medicine
|
November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Alistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.
Nature Genetics
|
May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
Jenny C Taylor, Hilary C Martin, Stefano Lise, et al.
Page
of 5