檢索結果 - Basran, Raveen

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

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

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Wilms tumour in Beckwith–Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines 由 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

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Reply to Brioude et al 由 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

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

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Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study 由 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

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Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray 由 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.

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions 由 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

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

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