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Matthew E Hurles

Showing results (141-150 of 190) with videos related to

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Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Nature Genetics|November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfismMargaret E Harley, Olga Murina, Andrea Leitch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysmsEva S van Walree, Gregor Dombrowsky, Iris E Jansen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysmsEva S van Walree, Gregor Dombrowsky, Iris E Jansen, et al.
Nature Genetics|April 6, 2010
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencingHansoo Park, Jong-Il Kim, Young Seok Ju, et al.
Nature Genetics|October 4, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apneaJanina Sörmann, Marcus Schewe, Peter Proks, et al.
Human Molecular Genetics|January 31, 2015
Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.
Pageof 19

Showing results (141-150 of 190) with videos related to

Sort By:
Pageof 19
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
Nature Genetics|November 24, 2015
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfismMargaret E Harley, Olga Murina, Andrea Leitch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysmsEva S van Walree, Gregor Dombrowsky, Iris E Jansen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Clinical and molecular consequences of disease-associated de novo mutations in SATB2Hemant Bengani, Mark Handley, Mohsan Alvi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysmsEva S van Walree, Gregor Dombrowsky, Iris E Jansen, et al.
Nature Genetics|April 6, 2010
Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencingHansoo Park, Jong-Il Kim, Young Seok Ju, et al.
Nature Genetics|October 4, 2022
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apneaJanina Sörmann, Marcus Schewe, Peter Proks, et al.
Human Molecular Genetics|January 31, 2015
Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.
Pageof 19