Gerarda Cappuccio to Genotype
This is a "connection" page, showing publications Gerarda Cappuccio has written about Genotype.
Connection Strength
0.225
-
Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. 2019 05; 42(3):509-518.
Score: 0.097
-
A clinical and genotype-phenotype analysis of MACF1 variants. Am J Hum Genet. 2025 Oct 02; 112(10):2363-2380.
Score: 0.038
-
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review. Birth Defects Res. 2022 08 01; 114(13):759-767.
Score: 0.031
-
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. J Med Genet. 2023 02; 60(2):163-173.
Score: 0.030
-
ZTTK syndrome: Clinical and molecular findings of?15 cases and a review of the literature. Am J Med Genet A. 2021 12; 185(12):3740-3753.
Score: 0.029