Associated Papers
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1
Insights into the genotype-phenotype relationship of ocular manifestations in Kabuki syndrome.
Shah SS et al.
American Journal of Medical Genetics. Part A, 2023
Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.
Faundes V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Syndromic Forms of Hyperinsulinaemic Hypoglycaemia-A 15-year follow-up Study.
Kostopoulou E et al.
Clinical Endocrinology, 2021
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Yap KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Correction: "Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals".
Yap KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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