ELIZABETH ROEDER to Heart Defects, Congenital
This is a "connection" page, showing publications ELIZABETH ROEDER has written about Heart Defects, Congenital.
Connection Strength
0.093
-
A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle. Am J Med Genet A. 2013 Dec; 161A(12):3121-5.
Score: 0.051
-
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809.
Score: 0.022
-
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med. 2020 02; 22(2):389-397.
Score: 0.019