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International Journal of Legal Medicine|August 29, 2019
Functional characterization of a novel SCN5A variant associated with long QT syndrome and sudden cardiac deathJacqueline Neubauer, Zizun Wang, Jean-Sébastien Rougier, et al.
Aging Cell|May 17, 2024
LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 geneAlyssia Matter, Christina Kaufman, Nadia Zürcher, et al.
Molecular Cytogenetics|September 18, 2012
Array comparative genomic hybridization in prenatal diagnosis of first trimester pregnancies at high risk for chromosomal anomaliesIsabel Filges, Anjeung Kang, Vanessa Klug, et al.
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|June 28, 2011
Fetal polydactyly: a study of 24 cases ascertained by prenatal sonographyIsabel Filges, Anjeung Kang, Jürgen Hench, et al.
Prenatal Diagnosis|February 26, 2011
aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosisIsabel Filges, Anjeung Kang, Vanessa Klug, et al.
Cureus|May 4, 2026
Aneurysmal Subarachnoid Hemorrhage in Pediatric DADA2: A Case Report and Literature ReviewPhilipp Becker, Tomas Dobrocky, Jan Gralla, et al.
Journal of Medical Genetics|January 16, 2007
Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300Deborah Bartholdi, Jeroen H Roelfsema, Francesco Papadia, et al.
BMC Ophthalmology|June 3, 2014
Anterior segment dysgenesis associated with Williams-Beuren syndrome: a case report and review of the literatureMargarita G Todorova, Matthias C Grieshaber, Rafael J A Cámara, et al.
Metabolic Engineering|April 2, 2013
mRNA transfection-based, feeder-free, induced pluripotent stem cells derived from adipose tissue of a 50-year-old patientBoon Chin Heng, Karl Heinimann, Peter Miny, et al.
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