10 results on '"Rare diseases -- Diagnosis -- Genetic aspects"'
Search Results
2. Phenotypic signatures in clinical data enable systematic identification of patients for genetic testing
3. University Hospital Dijon Researchers Update Understanding of Information Technology (Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis)
4. New Study Findings from Hospital Sant Joan de Deu Illuminate Research in Molecular Science (Molecular Modelling Hurdle in the Next-Generation Sequencing Era)
5. Investigators from Mayo Clinic Target Human Pathology (cellular Variant of Kaposiform Lymphangiomatosis: a Report of Three Cases, Expanding the Morphologic and Molecular Genetic Spectrum of This Rare Entity)
6. Assessing Utility of Clinical Exome Sequencing in Diagnosis of Rare Idiopathic Neurodevelopmental Disorders in Indian Population
7. Study Findings from Hospital University Vall d'Hebron Provide New Insights into Life Science (Implementacion De Un Panel De Genes Para El Diagnostico Genetico De La Discinesia Ciliar Primaria)
8. University College London (UCL) Reports Findings in Neurology (How to approach a neurogenetics diagnosis in different European countries: The European Academy of Neurology Neurogenetics Panel survey)
9. Researchers' Work from University of North Carolina Chapel Hill Focuses on Human Genetics [Development and validation of a measure of comprehension of genomic screening-negative results (CoG-NR)]
10. Genome sequencing can identify rare illnesses
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