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Petr Danecek

Showing results (31-40 of 50) with videos related to

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The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Wellcome Open Research|January 22, 2025
Exome sequencing of UK birth cohortsMahmoud Koko, Laurie Fabian, Iaroslav Popov, et al.
Nature|September 15, 2015
The UK10K project identifies rare variants in health and disease, Klaudia Walter, Josine L Min, et al.
Nature Communications|September 17, 2014
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in EuropeansNicholas J Timpson, Klaudia Walter, Josine L Min, et al.
Nature Communications|May 13, 2015
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in EuropeansNicholas J Timpson, Klaudia Walter, Josine L Min, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
Science (New York, N.Y.)|June 2, 2018
Ancient human parallel lineages within North America contributed to a coastal expansionC L Scheib, Hongjie Li, Tariq Desai, et al.
Nature|June 15, 2017
Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCsHelena Kilpinen, Angela Goncalves, Andreas Leha, et al.
Pageof 5

Showing results (31-40 of 50) with videos related to

Sort By:
Pageof 5
The New England Journal of Medicine|April 12, 2023
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and IrelandCaroline F Wright, Patrick Campbell, Ruth Y Eberhardt, et al.
Wellcome Open Research|January 22, 2025
Exome sequencing of UK birth cohortsMahmoud Koko, Laurie Fabian, Iaroslav Popov, et al.
Nature|September 15, 2015
The UK10K project identifies rare variants in health and disease, Klaudia Walter, Josine L Min, et al.
Nature Communications|September 17, 2014
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in EuropeansNicholas J Timpson, Klaudia Walter, Josine L Min, et al.
Nature Communications|May 13, 2015
Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in EuropeansNicholas J Timpson, Klaudia Walter, Josine L Min, et al.
Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.
American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.
Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.
Science (New York, N.Y.)|June 2, 2018
Ancient human parallel lineages within North America contributed to a coastal expansionC L Scheib, Hongjie Li, Tariq Desai, et al.
Nature|June 15, 2017
Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCsHelena Kilpinen, Angela Goncalves, Andreas Leha, et al.
Pageof 5