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Prenatal Diagnosis|December 5, 2024
Fetal Phenotyping and Whole Exome Sequencing for 12 Egyptian Families With Serine Biosynthesis Defect: Novel Clinical and Allelic Findings With a Founder EffectSara H El-Dessouky, Wessam E Sharaf-Eldin, Mona M Aboulghar, et al.Genome Medicine|November 30, 2023
Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneitySheng-Jia Lin, Barbara Vona, Tracy Lau, et al.Journal of Clinical Medicine|September 28, 2023
Rest and Stress Left Atrial Dysfunction in Patients with Atrial FibrillationAngela Zagatina, Maria Rivadeneira Ruiz, Quirino Ciampi, et al.American Journal of Human Genetics|April 23, 2025
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylationZain Dardas, Laura Harrold, Daniel G Calame, et al.Journal of Clinical Medicine|August 27, 2021
Stress Echo 2030: The Novel ABCDE-(FGLPR) Protocol to Define the Future of ImagingEugenio Picano, Quirino Ciampi, Lauro Cortigiani, et al.Pageof 8