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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 trial
Stephen F Kingsmore, Meredith Wright, Lauren Olsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2017
Response to Newman et al
Sumit Parikh, Amy Goldstein, Amel Karaa, 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 hyperselection
Stephen F Kingsmore, Meredith Wright, Laurie D Smith, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
Kylie Tingley, Monica Lamoureux, Michael Pugliese, 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 diseases
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
American Journal of Human Genetics
|
June 2, 2023
Response to Grosse et al
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
Nature Communications
|
July 26, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
Mallory J Owen, Sebastien Lefebvre, Christian Hansen, et al.
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Search research articles
Search
Showing results (61-70 of 68) with videos related to
Sort By:
Page
of 7
You have reached the last page of results.
This site can display upto 68 results.
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 trial
Stephen F Kingsmore, Meredith Wright, Lauren Olsen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Sumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 8, 2017
Response to Newman et al
Sumit Parikh, Amy Goldstein, Amel Karaa, 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 hyperselection
Stephen F Kingsmore, Meredith Wright, Laurie D Smith, et al.
Orphanet Journal of Rare Diseases
|
April 12, 2020
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network
Kylie Tingley, Monica Lamoureux, Michael Pugliese, 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 diseases
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
American Journal of Human Genetics
|
June 2, 2023
Response to Grosse et al
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, et al.
Nature Communications
|
July 26, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
Mallory J Owen, Sebastien Lefebvre, Christian Hansen, et al.
Page
of 7