A mutation screen in patients with Kabuki syndrome

Yerel katalogda bu makaleye atıf yapan 9 yayın (OpenAlex referans eşleşmesi; tam dünya listesi değildir).

1. 2016 Mutation Update for Kabuki Syndrome Genes and i KDM6A i and Further Delineation of X Linked Kabuki Syndrome Subtype 2 titleAtıf 197 · OpenAlex
2. 2016 Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand Further Delineation of X-Linked Kabuki Syndrome Subtype 2Atıf 193 · OpenAlex
3. 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Atıf 193 · OpenAlex
4. 2015 RAP1 mediated MEK ERK pathway defects in Kabuki syndromeAtıf 89 · OpenAlex
5. 2015 RAP1-mediated MEK/ERK pathway defects in Kabuki syndromeAtıf 87 · OpenAlex
6. 2021 A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki SyndromeAtıf 6 · OpenAlex
7. 2016 A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizuresAtıf 3 · OpenAlex
8. 2016 A novel de novo mutation involving the MLL2 gene in a Kabuki syndrome patient presenting with seizuresAtıf 3 · OpenAlex
9. 2025 A Case of Kabuki Make-up Syndrome Type-2 with Autism Spectrum DisorderAtıf 0 · OpenAlex