Search Results - Bekim Sadiković
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Complexity in Genetic Epilepsies: A Comprehensive Review by Cassandra Rastin, Laila C. Schenkel, Bekim Sadiković
Published 2023Revisão -
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Expression analysis of genes associated with human osteosarcoma tumors shows correlation of RUNX2 overexpression with poor response to chemotherapy by Bekim Sadiković, Paul S. Thorner, Susan Chilton‐MacNeill, Jeff W. Martin, Nilva K. Cervigne, Jeremy A. Squire, Maria Zieleńska
Published 2010Artigo -
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Identification of a methylation profile for DNMT1-associated autosomal dominant cerebellar ataxia, deafness, and narcolepsy by Kristin D. Kernohan, Laila C. Schenkel, Lijia Huang, Amanda Smith, Guillaume Paré, Peter Ainsworth, Kym M. Boycott, Jodi Warman‐Chardon, Bekim Sadiković
Published 2016Artigo -
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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance by Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković
Published 2017Artigo -
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Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in KDM5C by Laila C. Schenkel, Erfan Aref‐Eshghi, Cindy Skinner, Peter Ainsworth, Hanxin Lin, Guillaume Paré, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković
Published 2018Artigo -
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An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis by Ala Almanaseer, Benjamin Chin‐Yee, Jenny Ho, Alejandro Lazo‐Langner, Laila C. Schenkel, Pratibha Bhai, Bekim Sadiković, Ian Chin‐Yee, Cyrus C. Hsia
Published 2024Artigo -
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Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes by Bekim Sadiković, Jing Wang, Ayman W. El‐Hattab, Megan Landsverk, Ganka Douglas, Ellen K. Brundage, William J. Craigen, Eric Schmitt, Lee‐Jun C. Wong
Published 2010Artigo -
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Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders by Erfan Aref‐Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Victoria Mok Siu, David I. Rodenhiser, Charles E. Schwartz, Bekim Sadiković
Published 2017Artigo -
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