Хайлтын үр дүнгүүд - Riyana Babul‐Hirji

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  1. 1
    Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling

    Parents’ Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling -н Robin Z. Hayeems, Riyana Babul‐Hirji, Ny Hoang, Rosanna Weksberg, Cheryl Shuman

    Хэвлэсэн 2015
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    Artigo
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  2. 2
    Long QT, syndactyly, joint contractures, stroke and novel <i>CACNA1C</i> mutation: Expanding the spectrum of Timothy syndrome

    Long QT, syndactyly, joint contractures, stroke and novel <i>CACNA1C</i> mutation: Expanding the spectrum of Timothy syndrome -н Jane Gillis, Elena Burashnikov, Charles Antzelevitch, Susan Blasér, Gil J. Gross, Lesley Turner, Riyana Babul‐Hirji, David Chitayat

    Хэвлэсэн 2011
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    Artigo
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  3. 3
    A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus

    A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus -н Hiroyuki Takai, Emma M. Jenkinson, Shaheen Kabir, Riyana Babul‐Hirji, Nasrin Najm-Tehrani, David Chitayat, Yanick J. Crow, Titia de Lange

    Хэвлэсэн 2016
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    Artigo
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  4. 4
    Mutations in EZH2 Cause Weaver Syndrome

    Mutations in EZH2 Cause Weaver Syndrome -н William T. Gibson, Rebecca L. Hood, Shing H. Zhan, Dennis E. Bulman, Anthony P. Fejes, Richard A. Moore, Andrew J. Mungall, Patrice Eydoux, Riyana Babul‐Hirji, Jianghong An, Marco A. Marra, David Chitayat, Kym M. Boycott, David D. Weaver, Steven J.M. Jones

    Хэвлэсэн 2011
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    Artigo
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  5. 5
    Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

    Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome -н Karen Buysse, Moniek Riemersma, Gareth T. Powell, Jeroen van Reeuwijk, David Chitayat, Tony Roscioli, Erik‐Jan Kamsteeg, Christa van den Elzen, Ellen van Beusekom, Susan Blasér, Riyana Babul‐Hirji, W Halliday, Gavin J. Wright, Derek L. Stemple, Yung‐Yao Lin, Dirk J. Lefeber, Hans van Bokhoven

    Хэвлэсэн 2013
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    Artigo
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  6. 6
    CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence

    CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence -н Karina da Costa Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S. Dreseris, Cassandra J. Wong, Aline Iacovone, Carrie-Lynn M. Soltys, Riyana Babul‐Hirji, Osvaldo Alfonso Pinto Artigalás, Arthur Antolini‐Tavares, Anne‐Claude Gingras, Eric I. Campos, Denise P. Cavalcanti, Pekka Kannus

    Хэвлэсэн 2023
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    Artigo
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  7. 7
    Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

    Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine -н Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K. C. Yuen, Michael J. Szego, Robin Z. Hayeems, Randi Zlotnik Shaul, Michael Brudno, Marta Gîrdea, Brendan J. Frey, Babak Alipanahi, Sohnee Ahmed, Riyana Babul‐Hirji, Ramses Badilla Porras, Melissa T. Carter, Lauren Chad, Ayeshah Chaudhry, David Chitayat, Soghra Jougheh Doust, Cheryl Cytrynbaum, Lucie Dupuis, Resham Ejaz, Leona Fishman, Andrea Guerin, Bita Hashemi, Mayada Helal, Stacy Hewson, Michal Inbar‐Feigenberg, Pekka Kannus, Natalya Karp, Raymond H. Kim, Jonathan B. Kronick, Eriskay Liston, H. Robson MacDonald, Saadet Mercimek‐Mahmutoglu, Roberto Mendoza‐Londono, Enas Nasr, Graeme Nimmo, Nicole Parkinson, Nada Quercia, Julian Raiman, Maian Roifman, Andreas Schulze, Andrea Shugar, Cheryl Shuman, Pierre Sinajon, Komudi Siriwardena, Rosanna Weksberg, Grace Yoon, Chris Carew, Raith Erickson, Richard A. Leach, Robert J. Klein, Peter N. Ray, M. Stephen Meyn, Stephen W. Scherer, Ronald D. Cohn, Christian R. Marshall

    Хэвлэсэн 2016
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    Artigo
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  8. 8
    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

    Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1<... -н Yanick J. Crow, Diana Chase, Johanna L. Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Helman, Mohamed S. Abdel‐Hamid, Ghada M. H. Abdel‐Salam, Sam Ackroyd, Alec Aeby, Guillermo Agosta, Catherine S. W. Albin, Stavit A. Shalev, Montse Arellano, Giada Ariaudo, Vijay Aswani, Riyana Babul‐Hirji, Eileen Baildam, Nadia Bahi‐Buisson, Kathryn Bailey, Christine Barnérias, Magalie Barth, Roberta Battini, Michael W. Beresford, Geneviève Bernard, Marika Bianchi, Thierry Billette de Villemeur, Edward Blair, Miriam Bloom, Alberto Burlina, Maria Luisa Carpanelli, Daniel R. Carvalho, Manuel Castro‐Gago, Anna Cavallini, Cristina Cereda, Kate Chandler, David Chitayat, Abigail E. Collins, Concepción Sierra Córcoles, Nuno Cordeiro, Giovanni Crichiutti, Lyvia Dabydeen, Russell C. Dale, Stefano D’Arrigo, Christian G E L De Goede, Corinne De Laet, Liesbeth M. H. De Waele, Inés María Denzler, Isabelle Desguerre, Koenraad Devriendt, Maja Di Rocco, Michael Fahey, Elisa Fazzi, Colin D. Ferrie, António Figueiredo, Blanca Gener, Cyril Goizet, Nirmala Gowrinathan, Kalpana Gowrishankar, Donncha Hanrahan, Bertrand Isidor, Bülent Kara, Naz Khan, Mary D. King, Edwin P. Kirk, Ram Kumar, Lieven Lagae, P. Landrieu, Heinz Lauffer, Vincent Laugel, Roberta La Piana, Ming Lim, Jean‐Pierre Lin, Tarja Linnankivi, Mark T. Mackay, Daphna Marom, Charles Marques Lourenço, Shane McKee, Isabella Moroni, Jenny E.V. Morton, Marie‐Laure Moutard, Kevin Murray, Rima Nabbout, Sheela Nampoothiri, Noemí Núñez‐Enamorado, P.J. Oades, Ivana Olivieri, John R. Østergaard, Belén Pérez‐Dueñas, Julie Prendiville, Venkateswaran Ramesh, Magnhild Rasmussen, Luc Régal, Federica Ricci, Marlène Rio, Diana Rodriguez

    Хэвлэсэн 2015
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    Artigo
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