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Matthew Hurles

Showing results (21-30 of 33) with videos related to

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Plos Genetics|April 9, 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart DefectsJames R Priest, Kazutoyo Osoegawa, Nebil Mohammed, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.
Biological Psychiatry|July 23, 2013
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophreniaJennifer Gladys Mulle, Ann E Pulver, John A McGrath, et al.
Nature Neuroscience|August 6, 2013
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disordersGeorg Stoll, Olli P H Pietiläinen, Bastian Linder, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2014
Characterizing genetic variants for clinical actionErin M Ramos, Corina Din-Lovinescu, Jonathan S Berg, et al.
Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
Nature Genetics|October 30, 2012
Bayesian refinement of association signals for 14 loci in 3 common diseases, Julian B Maller, Gilean McVean, et al.
Pageof 4

Showing results (21-30 of 33) with videos related to

Sort By:
Pageof 4
Plos Genetics|April 9, 2016
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart DefectsJames R Priest, Kazutoyo Osoegawa, Nebil Mohammed, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaEmily C Oates, Alexander M Rossor, Majid Hafezparast, et al.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Nature Genetics|December 7, 2010
CEP152 is a genome maintenance protein disrupted in Seckel syndromeErsan Kalay, Gökhan Yigit, Yakup Aslan, et al.
Biological Psychiatry|July 23, 2013
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophreniaJennifer Gladys Mulle, Ann E Pulver, John A McGrath, et al.
Nature Neuroscience|August 6, 2013
Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disordersGeorg Stoll, Olli P H Pietiläinen, Bastian Linder, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2014
Characterizing genetic variants for clinical actionErin M Ramos, Corina Din-Lovinescu, Jonathan S Berg, et al.
Nature Genetics|December 17, 2013
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signalingClare V Logan, György Szabadkai, Jenny A Sharpe, et al.
Nature Genetics|October 30, 2012
Bayesian refinement of association signals for 14 loci in 3 common diseases, Julian B Maller, Gilean McVean, et al.
Pageof 4