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Human Mutation
|
February 4, 2010
Genetic diagnosis of familial breast cancer using clonal sequencing
Joanne E Morgan, Ian M Carr, Eamonn Sheridan, et al.
The EMBO Journal
|
July 23, 2013
SAMHD1-dependent retroviral control and escape in mice
Jan Rehwinkel, Jonathan Maelfait, Anne Bridgeman, et al.
Nucleic Acids Research
|
June 8, 2010
Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens
Henry M Wood, Ornella Belvedere, Caroline Conway, et al.
Human Molecular Genetics
|
August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation
Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Plos Genetics
|
September 19, 2014
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus
Christine P Diggle, Daniel J Moore, Girish Mali, et al.
The New England Journal of Medicine
|
April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>
André B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.
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Search research articles
Search
Showing results (11-20 of 17) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 17 results.
Human Mutation
|
February 4, 2010
Genetic diagnosis of familial breast cancer using clonal sequencing
Joanne E Morgan, Ian M Carr, Eamonn Sheridan, et al.
The EMBO Journal
|
July 23, 2013
SAMHD1-dependent retroviral control and escape in mice
Jan Rehwinkel, Jonathan Maelfait, Anne Bridgeman, et al.
Nucleic Acids Research
|
June 8, 2010
Using next-generation sequencing for high resolution multiplex analysis of copy number variation from nanogram quantities of DNA from formalin-fixed paraffin-embedded specimens
Henry M Wood, Ornella Belvedere, Caroline Conway, et al.
Human Molecular Genetics
|
August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation
Sarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohort
Sarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Plos Genetics
|
September 19, 2014
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus
Christine P Diggle, Daniel J Moore, Girish Mali, et al.
The New England Journal of Medicine
|
April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in <i>GLS</i>
André B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.
Page
of 2