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NPJ Genomic Medicine
|
March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery
Li Fu, Chong Ae Kim, Masatoshi Tokita, et al.
American Journal of Human Genetics
|
July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
Human Mutation
|
November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 28, 2022
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, et al.
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of 6
Search research articles
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Showing results (51-60 of 54) with videos related to
Sort By:
Page
of 6
You have reached the last page of results.
This site can display upto 54 results.
NPJ Genomic Medicine
|
March 27, 2026
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery
Li Fu, Chong Ae Kim, Masatoshi Tokita, et al.
American Journal of Human Genetics
|
July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
Human Mutation
|
November 1, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses
Yuri Uchiyama, Daisuke Yamaguchi, Kazuhiro Iwama, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 28, 2022
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
Masamune Sakamoto, Kazuhiro Iwama, Masayuki Sasaki, et al.
Page
of 6