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Guillermo Del Angel

Showing results (11-20 of 20) with videos related to

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Nature Genetics|April 12, 2011
A framework for variation discovery and genotyping using next-generation DNA sequencing dataMark A DePristo, Eric Banks, Ryan Poplin, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 3, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variantsRodrigo Montero-Lopez, Mariam R Farman, Florian Högler, et al.
Bone|October 28, 2023
The Global ALPL gene variant classification project: Dedicated to deciphering variantsMariam R Farman, Catherine Rehder, Theodora Malli, et al.
JBMR Plus|May 19, 2025
The ALPL gene variant project: results of the first 100 reclassified variantsMariam R Farman, Theodora Malli, Catherine Rehder, et al.
Cell Reports|March 8, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's diseaseThomas P Spargo, Chloe F Sands, Isabella R Juan, et al.
Nature|February 4, 2026
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomesXueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, et al.
Nature|March 31, 2026
Author Correction: Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomesXueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, et al.
American Journal of Human Genetics|August 25, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
American Journal of Human Genetics|June 2, 2023
Response to Grosse et alStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
Nature Genetics|March 28, 2026
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosityHye In Kim, Christopher DeBoever, Klaudia Walter, et al.
Pageof 2

Showing results (11-20 of 20) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 20 results.
Nature Genetics|April 12, 2011
A framework for variation discovery and genotyping using next-generation DNA sequencing dataMark A DePristo, Eric Banks, Ryan Poplin, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|October 3, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variantsRodrigo Montero-Lopez, Mariam R Farman, Florian Högler, et al.
Bone|October 28, 2023
The Global ALPL gene variant classification project: Dedicated to deciphering variantsMariam R Farman, Catherine Rehder, Theodora Malli, et al.
JBMR Plus|May 19, 2025
The ALPL gene variant project: results of the first 100 reclassified variantsMariam R Farman, Theodora Malli, Catherine Rehder, et al.
Cell Reports|March 8, 2025
Haploinsufficiency of ITSN1 is associated with a substantial increased risk of Parkinson's diseaseThomas P Spargo, Chloe F Sands, Isabella R Juan, et al.
Nature|February 4, 2026
Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomesXueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, et al.
Nature|March 31, 2026
Author Correction: Phenome-wide analysis of copy number variants in 470,727 UK Biobank genomesXueqing Zoe Zou, Fengyuan Hu, Haiyi Lou, et al.
American Journal of Human Genetics|August 25, 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseasesStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
American Journal of Human Genetics|June 2, 2023
Response to Grosse et alStephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
Nature Genetics|March 28, 2026
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosityHye In Kim, Christopher DeBoever, Klaudia Walter, et al.
Pageof 2