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Marshall Summar

Showing results (11-20 of 68) with videos related to

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Pharmaceutical Medicine|July 8, 2024
Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical TrialsGareth Baynam, Simeón Baker, Charles Steward, et al.
Molecular Genetics and Metabolism Reports|March 20, 2025
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatographyKirkland A Wilson, Yun Zhou, Gary Cunningham, et al.
Molecular Genetics and Metabolism|November 10, 2015
Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United StatesSarah Viall, Sneha Jain, Kimberly Chapman, et al.
The Lancet. Digital Health|April 24, 2022
A machine learning-based screening tool for genetic syndromes in children - Authors' replyAntonio R Porras, Kenneth Rosenbaum, Carlos Tor-Diez, et al.
Molecular Genetics and Metabolism Reports|September 19, 2017
Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolismBrian Kirmse, Juan Cabrerra-Luque, Omar Ayyub, et al.
American Journal of Medical Genetics. Part A|September 14, 2019
Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not ruleNatasha Shur, Brad Tinkle, Marshall Summar, et al.
Human Mutation|November 21, 2002
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutationsUte Spiekerkoetter, Angela Eeds, Zou Yue, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|August 21, 2016
Tetrahydrobiopterin oral therapy recouples eNOS and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigsAnna Dikalova, Judy L Aschner, Mark R Kaplowitz, et al.
The Lancet. Digital Health|September 5, 2021
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective studyAntonio R Porras, Kenneth Rosenbaum, Carlos Tor-Diez, et al.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference|January 9, 2015
Ensemble learning for the detection of facial dysmorphologyQian Zhao, Naoufel Werghi, Kazunori Okada, et al.
Pageof 7

Showing results (11-20 of 68) with videos related to

Sort By:
Pageof 7
Pharmaceutical Medicine|July 8, 2024
Increasing Diversity, Equity, Inclusion, and Accessibility in Rare Disease Clinical TrialsGareth Baynam, Simeón Baker, Charles Steward, et al.
Molecular Genetics and Metabolism Reports|March 20, 2025
A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatographyKirkland A Wilson, Yun Zhou, Gary Cunningham, et al.
Molecular Genetics and Metabolism|November 10, 2015
Short-term follow-up systems for positive newborn screens in the Washington Metropolitan Area and the United StatesSarah Viall, Sneha Jain, Kimberly Chapman, et al.
The Lancet. Digital Health|April 24, 2022
A machine learning-based screening tool for genetic syndromes in children - Authors' replyAntonio R Porras, Kenneth Rosenbaum, Carlos Tor-Diez, et al.
Molecular Genetics and Metabolism Reports|September 19, 2017
Plasma fibroblast growth factor-21 levels in patients with inborn errors of metabolismBrian Kirmse, Juan Cabrerra-Luque, Omar Ayyub, et al.
American Journal of Medical Genetics. Part A|September 14, 2019
Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not ruleNatasha Shur, Brad Tinkle, Marshall Summar, et al.
Human Mutation|November 21, 2002
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutationsUte Spiekerkoetter, Angela Eeds, Zou Yue, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|August 21, 2016
Tetrahydrobiopterin oral therapy recouples eNOS and ameliorates chronic hypoxia-induced pulmonary hypertension in newborn pigsAnna Dikalova, Judy L Aschner, Mark R Kaplowitz, et al.
The Lancet. Digital Health|September 5, 2021
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective studyAntonio R Porras, Kenneth Rosenbaum, Carlos Tor-Diez, et al.
Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference|January 9, 2015
Ensemble learning for the detection of facial dysmorphologyQian Zhao, Naoufel Werghi, Kazunori Okada, et al.
Pageof 7