Associated Papers
The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.
Lam WKJ et al.
The Lancet Regional Health. Western Pacific, 2025
39944418 (PubMed )
Supplement: mmc1.docx
Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.
Guindalini RSC et al.
Scientific Reports, 2022
35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency.
Apatean D et al.
Molecular Genetics and Metabolism Reports, 2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency.
Apatean D et al.
Molecular Genetics and Metabolism Reports, 2019
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma.
Wong K et al.
Nature Communications, 2019
30664638 (PubMed )
Supplement: 41467_2018_8081_MOESM5_ESM.xlsx › Equine-all_other
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y et al.
Journal of Human Genetics, 2018
The human homologue of unc-93 maps to chromosome 6q27 - characterisation and analysis in sporadic epithelial ovarian cancer.
Liu Y et al.
Bmc Genetics, 2002
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