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Amanda J Walne

Showing results (11-20 of 23) with videos related to

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Haematologica|December 20, 2011
Exome sequencing identifies MPL as a causative gene in familial aplastic anemiaAmanda J Walne, Arran Dokal, Vincent Plagnol, et al.
American Journal of Human Genetics|February 11, 2014
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial functionHemanth Tummala, Michael Kirwan, Amanda J Walne, et al.
Haematologica|August 18, 2012
Mutations in the telomere capping complex in bone marrow failure and related syndromesAmanda J Walne, Tanya Bhagat, Michael Kirwan, et al.
Human Molecular Genetics|May 18, 2007
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10Amanda J Walne, Tom Vulliamy, Anna Marrone, et al.
Blood Advances|October 9, 2021
Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypesAmanda J Walne, Tom Vulliamy, Findlay Bewicke-Copley, et al.
Human Genetics|March 12, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disordersKevin Norris, Amanda J Walne, Mark J Ponsford, et al.
Human Mutation|September 18, 2009
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemiaMichael Kirwan, Tom Vulliamy, Anna Marrone, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 9, 2020
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failureHemanth Tummala, Amanda J Walne, Findlay Bewicke-Copley, et al.
Blood|May 31, 2015
Triallelic and epigenetic-like inheritance in human disorders of telomeraseLaura C Collopy, Amanda J Walne, Shirleny Cardoso, et al.
American Journal of Human Genetics|June 28, 2016
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit MaturationHemanth Tummala, Amanda J Walne, Mike Williams, et al.
Pageof 3

Showing results (11-20 of 23) with videos related to

Sort By:
Pageof 3
Haematologica|December 20, 2011
Exome sequencing identifies MPL as a causative gene in familial aplastic anemiaAmanda J Walne, Arran Dokal, Vincent Plagnol, et al.
American Journal of Human Genetics|February 11, 2014
ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial functionHemanth Tummala, Michael Kirwan, Amanda J Walne, et al.
Haematologica|August 18, 2012
Mutations in the telomere capping complex in bone marrow failure and related syndromesAmanda J Walne, Tanya Bhagat, Michael Kirwan, et al.
Human Molecular Genetics|May 18, 2007
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10Amanda J Walne, Tom Vulliamy, Anna Marrone, et al.
Blood Advances|October 9, 2021
Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypesAmanda J Walne, Tom Vulliamy, Findlay Bewicke-Copley, et al.
Human Genetics|March 12, 2021
High-throughput STELA provides a rapid test for the diagnosis of telomere biology disordersKevin Norris, Amanda J Walne, Mark J Ponsford, et al.
Human Mutation|September 18, 2009
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemiaMichael Kirwan, Tom Vulliamy, Anna Marrone, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 9, 2020
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failureHemanth Tummala, Amanda J Walne, Findlay Bewicke-Copley, et al.
Blood|May 31, 2015
Triallelic and epigenetic-like inheritance in human disorders of telomeraseLaura C Collopy, Amanda J Walne, Shirleny Cardoso, et al.
American Journal of Human Genetics|June 28, 2016
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit MaturationHemanth Tummala, Amanda J Walne, Mike Williams, et al.
Pageof 3