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Genes
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October 29, 2025
Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus
Constantia Aristidou, Athina Theodosiou, Pavlos Antoniou, et al.
Human Molecular Genetics
|
February 26, 2011
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation
George Koumbaris, Hariklia Hatzisevastou-Loukidou, Angelos Alexandrou, et al.
British Journal of Haematology
|
May 30, 2018
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL
Jenny Klintman, Katerina Barmpouti, Samantha J L Knight, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 31, 2019
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
Katharina Schwarze, James Buchanan, Jilles M Fermont, et al.
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.
NPJ Genomic Medicine
|
June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
Leukemia
|
February 5, 2020
Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial
Stuart J Blakemore, Ruth Clifford, Helen Parker, 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.
Nature Genetics
|
November 5, 2022
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Pauline Robbe, Kate E Ridout, Dimitrios V Vavoulis, et al.
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Search research articles
Search
Showing results (11-20 of 19) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 19 results.
Genes
|
October 29, 2025
Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus
Constantia Aristidou, Athina Theodosiou, Pavlos Antoniou, et al.
Human Molecular Genetics
|
February 26, 2011
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation
George Koumbaris, Hariklia Hatzisevastou-Loukidou, Angelos Alexandrou, et al.
British Journal of Haematology
|
May 30, 2018
Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL
Jenny Klintman, Katerina Barmpouti, Samantha J L Knight, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 31, 2019
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom
Katharina Schwarze, James Buchanan, Jilles M Fermont, et al.
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.
NPJ Genomic Medicine
|
June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome study
Enrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
Leukemia
|
February 5, 2020
Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial
Stuart J Blakemore, Ruth Clifford, Helen Parker, 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.
Nature Genetics
|
November 5, 2022
Whole-genome sequencing of chronic lymphocytic leukemia identifies subgroups with distinct biological and clinical features
Pauline Robbe, Kate E Ridout, Dimitrios V Vavoulis, et al.
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of 2