Associated Papers
Prenatal genetic detection in foetus with gallbladder size anomalies: cohort study and systematic review of the literature.
Zeng Y et al.
Annals of Medicine, 2025
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
Brohl AS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28125078 (PubMed )
Supplement: NIHMS837744-supplement-Supplementary__Figure_and_Tables.pdf
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N et al.
Human Mutation, 2016
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