Retrieve available abstracts of 5 articles: HTML format
Single Articles
February 2025
SPITERI D, Grech L, Savona-Ventura C, Pace NP, et al Intrahepatic Cholestasis of Pregnancy: A Single-Centre Whole-Exome Sequencing
Study in a Maltese Cohort.
Clin Genet. 2025 Feb 16. doi: 10.1111/cge.14728. PubMedAbstract available
January 2025
DA SILVA FRANCO JF, Neves RL, Menezes AN, Nogueira BR, et al Hidden Aberrant Transcripts in TTC37 Cause Trichohepatoenteric Syndrome.
Clin Genet. 2025;107:113-114. PubMedAbstract available
December 2024
TENORIO-CASTANO J, Mansilla Aparicio E, Garcia Santiago FA, Klotz CM, et al Non-immune hydrops fetalis is associated with bi-allelic pathogenic variants in
the MYB Binding Protein 1a (MYBBP1A) gene.
Clin Genet. 2024;106:713-720. PubMedAbstract available
October 2024
GAUTHIER LW, Gossez M, Malcus C, Viel S, et al B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.
Clin Genet. 2024;106:476-482. PubMedAbstract available
April 2024
VANDEN BROEK K, Ryu JR, Perrier R, Tyndall AV, et al SAM domain variants of EPHB4 associated with aberrant signaling are linked to
lymphatic-related fetal hydrops and facial dysmorphology.
Clin Genet. 2024;105:386-396. PubMedAbstract available