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Cold Spring Harbor Molecular Case Studies
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March 17, 2017
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a <i>TUBB3</i> mutation
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, et al.
Nucleic Acids Research
|
December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
Tomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
Archana Rai, Jonathan Klonowski, Bo Yuan, et al.
Molecular Biology and Evolution
|
May 2, 2017
Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda
Seong-Il Eyun, Ho Young Soh, Marijan Posavi, et al.
American Journal of Human Genetics
|
June 21, 2025
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
Archana Rai, Jonathan Klonowski, Bo Yuan, et al.
Genome Medicine
|
December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Haowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Nature Genetics
|
March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
Xia Wang, Wu-Lin Charng, Chun-An Chen, et al.
Nature Communications
|
February 9, 2026
Rapid dissemination of Staphylococcus aureus in the neonatal intensive care unit is associated with invasive infection
Qianxuan She, Lakshmi Srinivasan, Erin Theiller, et al.
Genome Research
|
July 11, 2008
Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes
Jeffrey G Reid, Ankur K Nagaraja, Francis C Lynn, et al.
Molecular Psychiatry
|
February 11, 2015
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
G McMichael, M N Bainbridge, E Haan, et al.
Page
of 117
Search research articles
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Showing results (831-840 of 1,165) with videos related to
Sort By:
Page
of 117
Cold Spring Harbor Molecular Case Studies
|
March 17, 2017
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a <i>TUBB3</i> mutation
Ronak M Patel, David Liu, Claudia Gonzaga-Jauregui, et al.
Nucleic Acids Research
|
December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort
Tomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Medrxiv : the Preprint Server for Health Sciences
|
November 28, 2024
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
Archana Rai, Jonathan Klonowski, Bo Yuan, et al.
Molecular Biology and Evolution
|
May 2, 2017
Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda
Seong-Il Eyun, Ho Young Soh, Marijan Posavi, et al.
American Journal of Human Genetics
|
June 21, 2025
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
Archana Rai, Jonathan Klonowski, Bo Yuan, et al.
Genome Medicine
|
December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
Haowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Nature Genetics
|
March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
Xia Wang, Wu-Lin Charng, Chun-An Chen, et al.
Nature Communications
|
February 9, 2026
Rapid dissemination of Staphylococcus aureus in the neonatal intensive care unit is associated with invasive infection
Qianxuan She, Lakshmi Srinivasan, Erin Theiller, et al.
Genome Research
|
July 11, 2008
Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5'-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes
Jeffrey G Reid, Ankur K Nagaraja, Francis C Lynn, et al.
Molecular Psychiatry
|
February 11, 2015
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy
G McMichael, M N Bainbridge, E Haan, et al.
Page
of 117