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Journal of Human Genetics|November 4, 2020
Whole exome sequencing of fetal structural anomalies detected by ultrasonographyHiromi Aoi, Takeshi Mizuguchi, Toshifumi Suzuki, et al.Journal of Human Genetics|July 25, 2019
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeHiromi Aoi, Takeshi Mizuguchi, José Ricard Ceroni, et al.Genomics|August 30, 2022
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndromeRie Seyama, Yuri Uchiyama, José Ricard Magliocco Ceroni, et al.NPJ Genomic Medicine|March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discoveryLi Fu, Chong Ae Kim, Masatoshi Tokita, et al.Human Mutation|November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analysesYuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.Nature Communications|June 9, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathyAtsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu, et al.Journal of Human Genetics|September 19, 2019
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patientsFutoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto, et al.Pageof 2