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Tom Vulliamy

Showing results (21-30 of 50) with videos related to

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American Journal of Human Genetics|May 1, 2012
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasiaMichael Kirwan, Amanda J Walne, Vincent Plagnol, et al.
American Journal of Medical Genetics. Part A|July 2, 2003
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)Hans Knoblauch, Cornelia Tennstedt, Wolfgang Brueck, et al.
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.
Haematologica|July 21, 2007
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentationsAnna Marrone, Priya Sokhal, Amanda Walne, 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 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.
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.
BMC Blood Disorders|June 24, 2004
A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal HaemoglobinuriaW Nicol Keith, Tom Vulliamy, Jiangqin Zhao, et al.
Pageof 5

Showing results (21-30 of 50) with videos related to

Sort By:
Pageof 5
American Journal of Human Genetics|May 1, 2012
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasiaMichael Kirwan, Amanda J Walne, Vincent Plagnol, et al.
American Journal of Medical Genetics. Part A|July 2, 2003
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)Hans Knoblauch, Cornelia Tennstedt, Wolfgang Brueck, et al.
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.
Haematologica|July 21, 2007
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentationsAnna Marrone, Priya Sokhal, Amanda Walne, 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 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.
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.
BMC Blood Disorders|June 24, 2004
A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal HaemoglobinuriaW Nicol Keith, Tom Vulliamy, Jiangqin Zhao, et al.
Pageof 5