Last Posted: Jun-17-2019 11AM
Last Posted: Jun 13, 2019
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Giugliani Luciana et al. Genetics and molecular biology 2019 Jun - PEDIA: prioritization of exome data by image analysis.
Hsieh Tzung-Chien et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun - Current challenges in the management of patients with sickle cell disease - A report of the Italian experience.
Russo Giovanna et al. Orphanet journal of rare diseases 2019 14(1) 120 - Towards the automated economic assessment of newborn screening for rare diseases.
Prieto-González David et al. Journal of biomedical informatics 2019 May 103216 - MultiPLIER: A Transfer Learning Framework for Transcriptomics Reveals Systemic Features of Rare Disease.
Taroni Jaclyn N et al. Cell systems 2019 May 8(5) 380-394.e4 - Automated Detection of Macular Diseases by Optical Coherence Tomography and Artificial Intelligence Machine Learning of Optical Coherence Tomography Images.
Kuwayama Soichiro et al. Journal of ophthalmology 2019 20196319581 - Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Yuskiv Nataliya et al. Orphanet journal of rare diseases 2019 14(1) 7 - Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients.
Paquin Ryan S et al. Orphanet journal of rare diseases 2019 May 14(1) 102
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