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Matthew E Hurles

Showing results (71-80 of 188) with videos related to

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Human Genetics|May 20, 2015
Erratum to: Copy number variation in the human Y chromosome in the UK populationWei Wei, Tomas W Fitzgerald, Qasim Ayub, et al.
Nature|December 8, 2009
Large, rare chromosomal deletions associated with severe early-onset obesityElena G Bochukova, Ni Huang, Julia Keogh, et al.
Nature|March 22, 2018
De novo mutations in regulatory elements in neurodevelopmental disordersPatrick J Short, Jeremy F McRae, Giuseppe Gallone, et al.
Genome Research|September 1, 2017
Detection of structural mosaicism from targeted and whole-genome sequencing dataDaniel A King, Alejandro Sifrim, Tomas W Fitzgerald, et al.
Nature Genetics|December 15, 2015
Timing, rates and spectra of human germline mutationRaheleh Rahbari, Arthur Wuster, Sarah J Lindsay, et al.
Critical Reviews in Clinical Laboratory Sciences|June 10, 2024
Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping reviewJordan Canning, Rona J Strawbridge, Zosia Miedzybrodzka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomaliesElizabeth Quinlan-Jones, Jenny Lord, Denise Williams, et al.
Genome Biology|July 2, 2023
An Atlas of Variant Effects to understand the genome at nucleotide resolutionDouglas M Fowler, David J Adams, Anna L Gloyn, et al.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Frontiers in Cell and Developmental Biology|January 23, 2023
Differentiation of human induced pluripotent stem cells into cortical neural stem cellsAlexandra Neaverson, Malin H L Andersson, Osama A Arshad, et al.
Pageof 19

Showing results (71-80 of 188) with videos related to

Sort By:
Pageof 19
Human Genetics|May 20, 2015
Erratum to: Copy number variation in the human Y chromosome in the UK populationWei Wei, Tomas W Fitzgerald, Qasim Ayub, et al.
Nature|December 8, 2009
Large, rare chromosomal deletions associated with severe early-onset obesityElena G Bochukova, Ni Huang, Julia Keogh, et al.
Nature|March 22, 2018
De novo mutations in regulatory elements in neurodevelopmental disordersPatrick J Short, Jeremy F McRae, Giuseppe Gallone, et al.
Genome Research|September 1, 2017
Detection of structural mosaicism from targeted and whole-genome sequencing dataDaniel A King, Alejandro Sifrim, Tomas W Fitzgerald, et al.
Nature Genetics|December 15, 2015
Timing, rates and spectra of human germline mutationRaheleh Rahbari, Arthur Wuster, Sarah J Lindsay, et al.
Critical Reviews in Clinical Laboratory Sciences|June 10, 2024
Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping reviewJordan Canning, Rona J Strawbridge, Zosia Miedzybrodzka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomaliesElizabeth Quinlan-Jones, Jenny Lord, Denise Williams, et al.
Genome Biology|July 2, 2023
An Atlas of Variant Effects to understand the genome at nucleotide resolutionDouglas M Fowler, David J Adams, Anna L Gloyn, et al.
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Frontiers in Cell and Developmental Biology|January 23, 2023
Differentiation of human induced pluripotent stem cells into cortical neural stem cellsAlexandra Neaverson, Malin H L Andersson, Osama A Arshad, et al.
Pageof 19