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JAMA
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October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencing
Yaping Yang, Donna M Muzny, Fan Xia, et al.
American Journal of Human Genetics
|
December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Frederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, 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.
Brain : a Journal of Neurology
|
December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, 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.
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Search research articles
Search
Showing results (31-40 of 36) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 36 results.
JAMA
|
October 19, 2014
Molecular findings among patients referred for clinical whole-exome sequencing
Yaping Yang, Donna M Muzny, Fan Xia, et al.
American Journal of Human Genetics
|
December 27, 2016
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Frederike Leonie Harms, Katta M Girisha, Andrew A Hardigan, 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.
Brain : a Journal of Neurology
|
December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications
Ashish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, 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.
Page
of 4