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Tom Vulliamy

Showing results (41-50 of 50) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|July 11, 2018
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variantsHemanth Tummala, Arran D Dokal, Amanda Walne, et al.
EMBO Molecular Medicine|August 28, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenitaHemanth Tummala, Amanda J Walne, Mohsin Badat, et al.
Bioinformatics (Oxford, England)|March 24, 2017
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic dataNikolas Pontikos, Jing Yu, Ismail Moghul, et al.
Oncotarget|May 12, 2016
Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancerNirosha Suraweera, Dmitri Mouradov, Shan Li, et al.
Plos One|December 20, 2012
Characterisation and validation of insertions and deletions in 173 patient exomesFrancesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, et al.
Blood|March 23, 2023
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemiaMarja Hakkarainen, Ilse Kaaja, Suvi P M Douglas, et al.
Hemasphere|January 17, 2025
Disease characteristics and outcomes of acute myeloid leukemia in germline <i>RUNX1</i> deficiency (Familial Platelet Disorder with associated Myeloid Malignancy)Martijn P T Ernst, Jurjen Versluis, Peter J M Valk, et al.
Blood Advances|October 25, 2019
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variantsXi Luo, Simone Feurstein, Shruthi Mohan, et al.
Nature Communications|February 27, 2020
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variantsAna Rio-Machin, Tom Vulliamy, Nele Hug, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
Pageof 5

Showing results (41-50 of 50) with videos related to

Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 50 results.
Proceedings of the National Academy of Sciences of the United States of America|July 11, 2018
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic <i>ERCC6L2</i> variantsHemanth Tummala, Arran D Dokal, Amanda Walne, et al.
EMBO Molecular Medicine|August 28, 2024
The evolving genetic landscape of telomere biology disorder dyskeratosis congenitaHemanth Tummala, Amanda J Walne, Mohsin Badat, et al.
Bioinformatics (Oxford, England)|March 24, 2017
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic dataNikolas Pontikos, Jing Yu, Ismail Moghul, et al.
Oncotarget|May 12, 2016
Relative telomere lengths in tumor and normal mucosa are related to disease progression and chromosome instability profiles in colorectal cancerNirosha Suraweera, Dmitri Mouradov, Shan Li, et al.
Plos One|December 20, 2012
Characterisation and validation of insertions and deletions in 173 patient exomesFrancesco Lescai, Silvia Bonfiglio, Chiara Bacchelli, et al.
Blood|March 23, 2023
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemiaMarja Hakkarainen, Ilse Kaaja, Suvi P M Douglas, et al.
Hemasphere|January 17, 2025
Disease characteristics and outcomes of acute myeloid leukemia in germline <i>RUNX1</i> deficiency (Familial Platelet Disorder with associated Myeloid Malignancy)Martijn P T Ernst, Jurjen Versluis, Peter J M Valk, et al.
Blood Advances|October 25, 2019
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variantsXi Luo, Simone Feurstein, Shruthi Mohan, et al.
Nature Communications|February 27, 2020
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variantsAna Rio-Machin, Tom Vulliamy, Nele Hug, et al.
Nucleic Acids Research|December 1, 2016
The Human Phenotype Ontology in 2017Sebastian Köhler, Nicole A Vasilevsky, Mark Engelstad, et al.
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