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Nature Medicine
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March 11, 2025
The Rare Therapies Launchpad: a pilot program for individualized medicines in the UK
Daniel J O'Connor, Parker Moss, Matthew Wood, et al.
Circulation
|
October 6, 2010
Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy
Khalid Abozguia, Perry Elliott, William McKenna, et al.
Nature Genetics
|
May 8, 2012
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
Emma Jaeger, Simon Leedham, Annabelle Lewis, et al.
Communications Biology
|
April 22, 2020
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes
Peter A Perrino, Lidiya Talbot, Rose Kirkland, et al.
Nature Genetics
|
September 18, 2007
A genome-wide association study of global gene expression
Anna L Dixon, Liming Liang, Miriam F Moffatt, et al.
Human Molecular Genetics
|
March 27, 2013
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer
David N Church, Sarah E W Briggs, Claire Palles, et al.
Blood
|
August 24, 2012
Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns
Anna Schuh, Jennifer Becq, Sean Humphray, et al.
Gut
|
March 21, 2014
A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS
Dan Rosmarin, Claire Palles, Alistair Pagnamenta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Blood
|
August 29, 2015
Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL
Romain Guièze, Pauline Robbe, Ruth Clifford, et al.
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of 3
Search research articles
Search
Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
Nature Medicine
|
March 11, 2025
The Rare Therapies Launchpad: a pilot program for individualized medicines in the UK
Daniel J O'Connor, Parker Moss, Matthew Wood, et al.
Circulation
|
October 6, 2010
Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy
Khalid Abozguia, Perry Elliott, William McKenna, et al.
Nature Genetics
|
May 8, 2012
Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1
Emma Jaeger, Simon Leedham, Annabelle Lewis, et al.
Communications Biology
|
April 22, 2020
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes
Peter A Perrino, Lidiya Talbot, Rose Kirkland, et al.
Nature Genetics
|
September 18, 2007
A genome-wide association study of global gene expression
Anna L Dixon, Liming Liang, Miriam F Moffatt, et al.
Human Molecular Genetics
|
March 27, 2013
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer
David N Church, Sarah E W Briggs, Claire Palles, et al.
Blood
|
August 24, 2012
Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns
Anna Schuh, Jennifer Becq, Sean Humphray, et al.
Gut
|
March 21, 2014
A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS
Dan Rosmarin, Claire Palles, Alistair Pagnamenta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics
Allan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.
Blood
|
August 29, 2015
Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL
Romain Guièze, Pauline Robbe, Ruth Clifford, et al.
Page
of 3