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Matthew E Hurles

Showing results (171-180 of 190) with videos related to

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Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.
Nature|November 24, 2006
Global variation in copy number in the human genomeRichard Redon, Shumpei Ishikawa, Karen R Fitch, et al.
American Journal of Human Genetics|April 8, 2014
Rare variants in NR2F2 cause congenital heart defects in humansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Nature|March 23, 2017
Somatic mutations reveal asymmetric cellular dynamics in the early human embryoYoung Seok Ju, Inigo Martincorena, Moritz Gerstung, et al.
Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.
Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics|July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Pageof 19

Showing results (171-180 of 190) with videos related to

Sort By:
Pageof 19
Proceedings of the National Academy of Sciences of the United States of America|May 9, 2012
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autismPatrícia B S Celestino-Soper, Sara Violante, Emily L Crawford, et al.
Nature|November 24, 2006
Global variation in copy number in the human genomeRichard Redon, Shumpei Ishikawa, Karen R Fitch, et al.
American Journal of Human Genetics|April 8, 2014
Rare variants in NR2F2 cause congenital heart defects in humansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
American Journal of Medical Genetics. Part A|February 5, 2016
Clinical delineation of the PACS1-related syndrome--Report on 19 patientsJanneke H M Schuurs-Hoeijmakers, Megan L Landsverk, Nicola Foulds, et al.
Lancet (London, England)|February 5, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort studyJenny Lord, Dominic J McMullan, Ruth Y Eberhardt, et al.
Cell|August 2, 2022
A cross-disorder dosage sensitivity map of the human genomeRyan L Collins, Joseph T Glessner, Eleonora Porcu, et al.
Nature|March 23, 2017
Somatic mutations reveal asymmetric cellular dynamics in the early human embryoYoung Seok Ju, Inigo Martincorena, Moritz Gerstung, et al.
Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.
Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Plos Genetics|July 29, 2021
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.
Pageof 19