Výsledky vyhledávání - Basran, Raveen

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  1. 1
    An Update on Molecular Diagnostic Testing of Human Imprinting Disorders

    An Update on Molecular Diagnostic Testing of Human Imprinting Disorders Autor Grafodatskaya, Daria, Choufani, Sanaa, Basran, Raveen, Weksberg, Rosanna

    Vydáno 2017
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  2. 2
    A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?

    A Next-Generation Sequencing Primer—How Does It Work and What Can It Do? Autor Alekseyev, Yuriy O., Fazeli, Roghayeh, Yang, Shi, Basran, Raveen, Maher, Thomas, Miller, Nancy S., Remick, Daniel

    Vydáno 2018
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  3. 3
    Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines

    Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines Autor Brzezinski, Jack, Shuman, Cheryl, Choufani, Sanaa, Ray, Peter, Stavropoulos, Dmitiri J, Basran, Raveen, Steele, Leslie, Parkinson, Nicole, Grant, Ronald, Thorner, Paul, Lorenzo, Armando, Weksberg, Rosanna

    Vydáno 2017
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  4. 4
    Reply to Brioude et al

    Reply to Brioude et al Autor Brzezinski, Jack, Shuman, Cheryl, Choufani, Sanaa, Ray, Peter, Stavropoulos, Dimitri J, Basran, Raveen, Steele, Leslie, Parkinson, Nicole, Grant, Ronald, Thorner, Paul, Lorenzo, Armando, Weksberg, Rosanna

    Vydáno 2018
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  5. 5
    A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F

    A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F Autor Chen, Zhiyi, Luo, Hong-Yuan, Basran, Raveen K., Hsu, Tien-Huei, Mang, Daniel W. H., Nuntakarn, Lalana, Rosenfield, Cathy G., Patrinos, George P., Hardison, Ross C., Steinberg, Martin H., Chui, David H. K.

    Vydáno 2008
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  6. 6
    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

    Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study Autor Cohn, Iris, Paton, Tara A., Marshall, Christian R., Basran, Raveen, Stavropoulos, Dimitri J., Ray, Peter N., Monfared, Nasim, Hayeems, Robin Z., Meyn, M. Stephen, Bowdin, Sarah, Scherer, Stephen W., Cohn, Ronald D., Ito, Shinya

    Vydáno 2017
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  7. 7
    Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

    Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray Autor Hayeems, Robin Z., Bhawra, Jasmin, Tsiplova, Kate, Meyn, M. Stephen, Monfared, Nasim, Bowdin, Sarah, Stavropoulos, D. James, Marshall, Christian R., Basran, Raveen, Shuman, Cheryl, Ito, Shinya, Cohn, Iris, Hum, Courtney, Girdea, Marta, Brudno, Michael, Cohn, Ronald D., Scherer, Stephen W., Ungar, Wendy J.

    Vydáno 2017
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  8. 8
    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

    CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions Autor Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna

    Vydáno 2017
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  9. 9
    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

    Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test Autor Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R

    Vydáno 2018
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