Categoría: ORIGINAL ARTICLE

Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low‐GGT intrahepatic cholestasis: Genetic diagnosis and genotype–phenotype correlation assessment

Dic 18, 2023

—

por

en Annual Review of Genomics and Human Genetics, Articulos, ORIGINAL ARTICLE

Annals of Human Genetics, EarlyView.
Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR

Nov 28, 2023

—

por

nPaola Bettinaglio, nViviana Tritto, nRosina Paterra, nMarica Eoli, nPaola Rivan

en Annual Review of Genomics and Human Genetics, Articulos, ORIGINAL ARTICLE

Annals of Human Genetics, EarlyView.