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Orphanet Journal of Rare Diseases
|
July 11, 2013
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
Jiadi Wen, Fátima Lopes, Gabriela Soares, et al.
Genes
|
August 28, 2025
Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing
Wenjiao Li, Xiaolei Xie, Hongyan Chai, et al.
Genetics in Medicine Open
|
May 28, 2026
Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing
Mei Ling Chong, Bruna Burssed, Chen Zhao, et al.
Human Mutation
|
October 17, 2013
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes
Ying Qiao, Kajari Mondal, Valentina Trapani, et al.
JCI Insight
|
October 5, 2016
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis
Hani Bagheri, Chansonette Badduke, Ying Qiao, et al.
Page
of 3
Search research articles
Search
Showing results (21-30 of 25) with videos related to
Sort By:
Page
of 3
You have reached the last page of results.
This site can display upto 25 results.
Orphanet Journal of Rare Diseases
|
July 11, 2013
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
Jiadi Wen, Fátima Lopes, Gabriela Soares, et al.
Genes
|
August 28, 2025
Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing
Wenjiao Li, Xiaolei Xie, Hongyan Chai, et al.
Genetics in Medicine Open
|
May 28, 2026
Unravelling ring chromosome structures and formation mechanisms by short-read and long-read genomic sequencing
Mei Ling Chong, Bruna Burssed, Chen Zhao, et al.
Human Mutation
|
October 17, 2013
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes
Ying Qiao, Kajari Mondal, Valentina Trapani, et al.
JCI Insight
|
October 5, 2016
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis
Hani Bagheri, Chansonette Badduke, Ying Qiao, et al.
Page
of 3