Search research articles
Contact Us
Filters
Showing results (311-320 of 315) with videos related to
Page
of 32
Sort By:
You have reached the last page of results.
This site can display upto 315 results.
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.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, 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.
Medrxiv : the Preprint Server for Health Sciences
|
April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature
|
July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Page
of 32
Search research articles
Search
Showing results (311-320 of 315) with videos related to
Sort By:
Page
of 32
You have reached the last page of results.
This site can display upto 315 results.
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.
Medrxiv : the Preprint Server for Health Sciences
|
July 3, 2026
Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing
Alba Sanchis-Juan, Yulia Mostovoy, Sarah L Stenton, 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.
Medrxiv : the Preprint Server for Health Sciences
|
April 22, 2024
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Nature
|
July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.
Page
of 32