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Human Mutation
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August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome
Jeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
American Journal of Human Genetics
|
March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population
Myriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
Nature Genetics
|
January 10, 2017
Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas
Simon Papillon-Cavanagh, Chao Lu, Tenzin Gayden, et al.
Nature Communications
|
April 7, 2016
Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma
Hamid Nikbakht, Eshini Panditharatna, Leonie G Mikael, et al.
Nature
|
September 6, 2019
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape
Daniel N Weinberg, Simon Papillon-Cavanagh, Haifen Chen, et al.
Science (New York, N.Y.)
|
May 14, 2016
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape
Chao Lu, Siddhant U Jain, Dominik Hoelper, et al.
Nature Communications
|
March 21, 2019
H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis
Ashot S Harutyunyan, Brian Krug, Haifen Chen, et al.
Nature Genetics
|
December 10, 2013
Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR
Claudia L Kleinman, Noha Gerges, Simon Papillon-Cavanagh, et al.
Nature Genetics
|
April 8, 2014
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
Adam M Fontebasso, Simon Papillon-Cavanagh, Jeremy Schwartzentruber, et al.
Nature
|
December 6, 2019
The molecular landscape of ETMR at diagnosis and relapse
Sander Lambo, Susanne N Gröbner, Tobias Rausch, et al.
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Search research articles
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Showing results (11-20 of 21) with videos related to
Sort By:
Page
of 3
Human Mutation
|
August 19, 2014
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome
Jeremy Schwartzentruber, Daniela Buhas, Jacek Majewski, et al.
American Journal of Human Genetics
|
March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population
Myriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
Nature Genetics
|
January 10, 2017
Impaired H3K36 methylation defines a subset of head and neck squamous cell carcinomas
Simon Papillon-Cavanagh, Chao Lu, Tenzin Gayden, et al.
Nature Communications
|
April 7, 2016
Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma
Hamid Nikbakht, Eshini Panditharatna, Leonie G Mikael, et al.
Nature
|
September 6, 2019
The histone mark H3K36me2 recruits DNMT3A and shapes the intergenic DNA methylation landscape
Daniel N Weinberg, Simon Papillon-Cavanagh, Haifen Chen, et al.
Science (New York, N.Y.)
|
May 14, 2016
Histone H3K36 mutations promote sarcomagenesis through altered histone methylation landscape
Chao Lu, Siddhant U Jain, Dominik Hoelper, et al.
Nature Communications
|
March 21, 2019
H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3 and is essential for glioma tumorigenesis
Ashot S Harutyunyan, Brian Krug, Haifen Chen, et al.
Nature Genetics
|
December 10, 2013
Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR
Claudia L Kleinman, Noha Gerges, Simon Papillon-Cavanagh, et al.
Nature Genetics
|
April 8, 2014
Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma
Adam M Fontebasso, Simon Papillon-Cavanagh, Jeremy Schwartzentruber, et al.
Nature
|
December 6, 2019
The molecular landscape of ETMR at diagnosis and relapse
Sander Lambo, Susanne N Gröbner, Tobias Rausch, et al.
Page
of 3