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Medrxiv : the Preprint Server for Health Sciences
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April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discovery
Jeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
American Journal of Human Genetics
|
April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2
Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
The New England Journal of Medicine
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June 5, 2024
Genome Sequencing for Diagnosing Rare Diseases
Monica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
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Search research articles
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Showing results (311-320 of 316) with videos related to
Sort By:
Page
of 32
You have reached the last page of results.
This site can display upto 316 results.
Medrxiv : the Preprint Server for Health Sciences
|
April 3, 2026
Integrating 730,947 exome sequences with clinical literature improves gene discovery
Jeremy Guez, Julia K Goodrich, Mikhail A Moldovan, et al.
American Journal of Human Genetics
|
April 16, 2021
A form of muscular dystrophy associated with pathogenic variants in JAG2
Sandra Coppens, Alison M Barnard, Sanna Puusepp, et al.
Medrxiv : the Preprint Server for Health Sciences
|
October 24, 2023
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
American Journal of Human Genetics
|
April 2, 2024
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
The New England Journal of Medicine
|
June 5, 2024
Genome Sequencing for Diagnosing Rare Diseases
Monica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
Page
of 32