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Molecular Genetics and Metabolism|June 9, 2016
Tracking medical genetic literature through machine learningAaron T Bornstein, Matthew H McLoughlin, Jesus Aguilar, et al.
Journal of the American Medical Informatics Association : JAMIA|May 6, 2026
Disparate language and model effects on AI-based translation and recognition of genetic conditionsDat Duong, Irini Manoli, Shubha R Phadke, et al.
International Ophthalmology|July 23, 2025
Advances in machine learning for ABCA4-related retinopathy: segmentation and phenotypingYousif J Shwetar, Brian P Brooks, Brett G Jeffrey, et al.
Molecular Genetics & Genomic Medicine|January 26, 2018
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospitalNatalie S Hauser, Benjamin D Solomon, Thierry Vilboux, et al.
Environmental Health : a Global Access Science Source|June 10, 2020
Prenatal exposure to pesticides and risk for holoprosencephaly: a case-control studyYonit A Addissie, Paul Kruszka, Angela Troia, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 6, 2018
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephalyTommy Hu, Paul Kruszka, Ariel F Martinez, et al.
Nature Genetics|October 7, 2008
Regulation of a remote Shh forebrain enhancer by the Six3 homeoproteinYongsu Jeong, Federico Coluccio Leskow, Kenia El-Jaick, et al.
Human Genetics|April 10, 2002
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyJeffrey E Ming, Michelle E Kaupas, Erich Roessler, et al.
Birth Defects Research|October 19, 2019
Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral arteryPaul Kruszka, Ashley Buscetta, Maria T Acosta, et al.
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