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Showing results (11-20 of 17) with videos related to

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American Journal of Medical Genetics. Part A|June 17, 2024
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP RegistryPriya S Kishnani, Lothar Seefried, Kathryn M Dahir, et al.
Journal of Medical Genetics|February 18, 2025
Disease burden by <i>ALPL</i> variant number in patients with non-life-threatening hypophosphatasia in the Global HPP RegistryPriya S Kishnani, Lothar Seefried, Kathryn M Dahir, et al.
Orphanet Journal of Rare Diseases|November 25, 2025
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world dataPriya S Kishnani, Lothar Seefried, Keiichi Ozono, et al.
American Journal of Human Genetics|December 6, 2024
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trialStephen F Kingsmore, Meredith Wright, Lauren Olsen, et al.
American Journal of Human Genetics|December 6, 2024
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselectionStephen F Kingsmore, Meredith Wright, Laurie D Smith, 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.
Pageof 2

Showing results (11-20 of 17) with videos related to

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Pageof 2
You have reached the last page of results.This site can display upto 17 results.
American Journal of Medical Genetics. Part A|June 17, 2024
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP RegistryPriya S Kishnani, Lothar Seefried, Kathryn M Dahir, et al.
Journal of Medical Genetics|February 18, 2025
Disease burden by <i>ALPL</i> variant number in patients with non-life-threatening hypophosphatasia in the Global HPP RegistryPriya S Kishnani, Lothar Seefried, Kathryn M Dahir, et al.
Orphanet Journal of Rare Diseases|November 25, 2025
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world dataPriya S Kishnani, Lothar Seefried, Keiichi Ozono, et al.
American Journal of Human Genetics|December 6, 2024
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trialStephen F Kingsmore, Meredith Wright, Lauren Olsen, et al.
American Journal of Human Genetics|December 6, 2024
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselectionStephen F Kingsmore, Meredith Wright, Laurie D Smith, 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.
Pageof 2