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1by Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A, Stadnik, Paulina, Joseph, Agnel P, Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M, Jacques, Thomas S, James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim M, Khan, Amjad, Lindhurst, Marjorie J, Lipson, Mark, Mansour, Sahar, O'Hara, Justine, Mahon, Caroline, Mosica, Anda, Moss, Celia, Murthy, Aditi, Ong, Juling, Parker, Victoria E, Rivière, Jean-Baptiste, Sapp, Julie C, Sebire, Neil J, Shah, Rahul, Sivakumar, Branavan, Thomas, Anna, Virasami, Alex, Waelchli, Regula, Zeng, Zhiqiang, Biesecker, Leslie G, Barnacle, Alex, Topf, Maya, Semple, Robert K, Patton, E Elizabeth, Kinsler, Veronica AGet full text
Published in The Journal of clinical investigation
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6by Rocha, Nuno, Bulger, David A, Frontini, Andrea, Titheradge, Hannah, Gribsholt, Sigrid Bjerge, Knox, Rachel, Page, Matthew, Harris, Julie, Payne, Felicity, Adams, Claire, Sleigh, Alison, Crawford, John, Gjesing, Anette Prior, Bork-Jensen, Jette, Pedersen, Oluf, Barroso, Inês, Hansen, Torben, Cox, Helen, Reilly, Mary, Rossor, Alex, Brown, Rebecca J, Taylor, Simeon I, McHale, Duncan, Armstrong, Martin, Oral, Elif A, Saudek, Vladimir, O'Rahilly, Stephen, Maher, Eamonn R, Richelsen, Bjørn, Savage, David B, Semple, Robert KGet full text
Published in eLife
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9by Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E.R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, PierreGet full text
Published in Genetics in medicine
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10by Kwok, Albert, Zvetkova, Ilona, Virtue, Sam, Luijten, Ineke, Huang-Doran, Isabel, Tomlinson, Patsy, Bulger, David A., West, James, Murfitt, Steven, Griffin, Julian, Alam, Rafeah, Hart, Daniel, Knox, Rachel, Voshol, Peter, Vidal-Puig, Antonio, Jensen, Jørgen, O'Rahilly, Stephen, Semple, Robert K.Get full text
Published in Molecular metabolism (Germany)
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13by Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sancha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, Nourse, Craig, Santoyo-Lopez, Javier, Semple, Colin A., Williams, Nicola, Aitman, Tim, Barroso, Inês, Basel, Donald, Bicknell, Louise S., Goel, Himanshu, Hu, Hao, Huff, Chad, Hutchison, Michele, Joyce, Caroline, Knox, Rachel, Lacroix, Amy E., Langlois, Sylvie, McCandless, Shawn, McCarrier, Julie, Metcalfe, Kay A., Morrissey, Rose, Murphy, Nuala, Netchine, Irène, O’Connell, Susan M., Olney, Ann Haskins, Paria, Nandina, Rosenfeld, Jill A., Sherlock, Mark, Syverson, Erin, White, Perrin C., Wise, Carol, Yu, Yao, Zacharin, Margaret, Banerjee, Indraneel, Reijns, Martin, Bober, Michael B., Semple, Robert K., Boulton, Simon J., Rios, Jonathan J., Jackson, Andrew P.Get full text
Published in American journal of human genetics
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14by Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A, Stadnik, Paulina, Joseph, Agnel P, Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M, Jacques, Thomas S, James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim M, Khan, Amjad, Lindhurst, Marjorie J, Lipson, Mark, Mansour, Sahar, O'Hara, Justine, Mahon, Caroline, Mosica, Anda, Moss, Celia, Murthy, Aditi, Ong, Juling, Parker, Victoria E, Rivière, Jean-Baptiste, Sapp, Julie C, Sebire, Neil J, Shah, Rahul, Sivakumar, Branavan, Thomas, Anna, Virasami, Alex, Waelchli, Regula, Zeng, Zhiqiang, Biesecker, Leslie G, Barnacle, Alex, Topf, Maya, Semple, Robert K, Patton, E Elizabeth, Kinsler, Veronica AGet full text
Published in The Journal of clinical investigation
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15by Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E.R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, PierreGet full text
Published in Genetics in medicine
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16by Leiter, Sarah M, Parker, Victoria E R, Welters, Alena, Knox, Rachel, Rocha, Nuno, Clark, Graeme, Payne, Felicity, Lotta, Luca, Harris, Julie, Guerrero-Fernández, Julio, González-Casado, Isabel, García-Miñaur, Sixto, Gordo, Gema, Wareham, Nick, Martínez-Glez, Víctor, Allison, Michael, O’Rahilly, Stephen, Barroso, Inês, Meissner, Thomas, Davies, Susan, Hussain, Khalid, Temple, Karen, Barreda-Bonis, Ana-Coral, Kummer, Sebastian, Semple, Robert KGet full text
Published in European journal of endocrinology
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17by Carmignac Virginie, Mignot Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Marie-Hélène, Aubriot-Lorton, Parker, Victoria E, Sorlin Arthur, Fraitag Sylvie, Jean-Benoît, Courcet, Duffourd Yannis, Rodriguez, Diana, Knox, Rachel G, Satyamaanasa, Polubothu, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency Véronique, Riachi, Melissa, Quelin Chloé, Rollier, Paul, Goujon Louise, Grotto, Sarah, Capri Yline, Marie-Line, Jacquemont, Odent Sylvie, Amram, Daniel, Chevarin Martin, Vincent-Delorme, Catherine, Catteau Benoît, Guibaud Laurent, Arzimanoglou Alexis, Keddar Malika, Sarret, Catherine, Callier, Patrick, Bessis Didier, David, Geneviève, Deleuze Jean-François, Thauvin Christel, Semple, Robert K, Christophe, Philippe, Rivière Jean-Baptiste, Kinsler, Veronica A, Faivre, Laurence, Vabres PierreGet full text
Published in Genetics in medicine
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18by Puchtler, Tim J, Johnson, Kerr, Palmer, Rebecca N, Talbot, Emma L, Ibbotson, Lindsey A, Powalowska, Paulina K, Knox, Rachel, Shibahara, Aya, M. S. Cunha, Pedro, Newell, Oliver J, Wu, Mei, Chana, Jasmin, Athanasopoulou, Evangelia-Nefeli, Waeber, Andreas M, Stolarek, Magdalena, Silva, Ana-Luisa, Mordaka, Justyna M, Haggis-Powell, Michael, Xyrafaki, Christina, Bush, James, Topkaya, Ibrahim S, Sosna, Maciej, Ingham, Richard J, Huckvale, Thomas, Negrea, Aurel, Breiner, Boris, Šlikas, Justinas, Kelly, Douglas J, Dunning, Alexander J, Bell, Neil M, Dethlefsen, Mark, Love, David M, Dear, Paul H, Kuleshova, Jekaterina, Podd, Gareth J, Isaac, Tom H, Balmforth, Barnaby W, Frayling, Cameron AGet full text
Published in Nucleic acids research
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19Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactylyby Tripolszki, Kornélia, Knox, Rachel, Parker, Victoria, Semple, Robert, Farkas, Katalin, Sulák, Adrien, Horváth, Emese, Széll, Márta, Nagy, NikolettaGet full text
Published in European journal of medical genetics
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20by Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A, Stadnik, Paulina, Joseph, Agnel P, Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M, Jacques, Thomas, James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim MGet full text
Published in Archives of disease in childhood
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