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Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, 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.
Biorxiv : the Preprint Server for Biology
|
September 16, 2024
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner
Toni A Boltz, Benjamin B Chu, Calwing Liao, et al.
Nature Communications
|
April 18, 2019
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Mark J P Chaisson, Ashley D Sanders, Xuefang Zhao, et al.
Nature Genetics
|
November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin, Harrison Brand, Ryan L Collins, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
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Showing results (81-90 of 87) with videos related to
Sort By:
Page
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You have reached the last page of results.
This site can display upto 87 results.
Nature Genetics
|
January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Natalie D Shaw, Harrison Brand, Zachary A Kupchinsky, 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.
Biorxiv : the Preprint Server for Biology
|
September 16, 2024
A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner
Toni A Boltz, Benjamin B Chu, Calwing Liao, et al.
Nature Communications
|
April 18, 2019
Multi-platform discovery of haplotype-resolved structural variation in human genomes
Mark J P Chaisson, Ashley D Sanders, Xuefang Zhao, et al.
Nature Genetics
|
November 15, 2016
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
Claire Redin, Harrison Brand, Ryan L Collins, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 3, 2023
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Siwei Chen, Bassel W Abou-Khalil, Zaid Afawi, et al.
Page
of 9