학술논문
'학술논문'
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1~10
Academic Journal
Wang, Chiuhui Mary; Whiting, Amy Heagle; Rath, Ana; Anido, Roberta; Ardigò, Diego; Baynam, Gareth; Dawkins, Hugh; Hamosh, Ada; Le Cam, Yann; Malherbe, Helen; Molster, Caron M.; Monaco, Lucia; Padilla, Carmencita D.; Pariser, Anne R.; Robinson, Peter N.; Rodwell, Charlotte; Schaefer, Franz; Weber, Stefanie; Macchia, Flaminia
Academic Journal
Maiella, Sylvie; Olry, Annie; Hanauer, Marc; Lanneau, Valérie; Lourghi, Halima; Donadille, Bruno; Rodwell, Charlotte; Köhler, Sebastian; Seelow, Dominik; Jupp, Simon; Parkinson, Helen; Groza, Tudor; Brudno, Michael; Robinson, Peter N.; Rath, Ana
In European Journal of Medical Genetics November 2018 61(11):706-714
Academic Journal
DiStefano, Marina; Alkuraya, Fowzan; Amberger, Joanna; Austin-Tse, Christina; Austine, Ola; Balzotti, Marie; Berg, Jonathan; Bruford, Elspeth; Byrne, Alicia; Cibrian-Uhalte, Elena; Coffey, Alison; Firth, Helen; Hamosh, Ada; Hunt, Sarah; Klein, Teri; Kurtz, Catherine; Leigh, Sarah; Leong, Ivone; Lucano, Caterina; Maddirevula, Sateesh; O'Neill, Audrey; Puzriakova, Arina; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Taylor, Julie; Sangkuhl, Katrin; Snow, Catherine; Stark, Zornitza; Ware, James; Wayburn, Bess; Weller, Phillip; Rehm, Heidi
In Genetics in Medicine Open 2024 2 Supplement 1
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Academic Journal
DiStefano, Marina; Amberger, Joanna; Austin-Tse, Christina; Balzotti, Marie; Amin, Mutaz; Berg, Jonathan; Bocchini, Carol; Bruford, Elspeth; Alkuraya, Fowzan; Coffey, Alison; Collins, Heather; Cunningham, Fiona; Firth, Helen; Fitzpatrick, David; Einhorn, Yaron; Goldstein, Jennifer; Hamosh, Ada; Leigh, Sarah; Leong, Ivone; Martin, Christa; McDonagh, Ellen; Puzriakova, Arina; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Sangkuhl, Katrin; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Ware, James; Williams, Eleanor; Wright, Caroline; Yates, Michael; Weller, Phillip; Rehm, Heidi
In Genetics in Medicine Open 2023 1(1) Supplement
Drysdale, Rachel; Cook, Charles E; Petryszak, Robert; Baillie-Gerritsen, Vivienne; Barlow, Mary; Gasteiger, Elisabeth; Gruhl, Franziska; Haas, Jürgen; Lanfear, Jerry; Lopez, Rodrigo; Redaschi, Nicole; Stockinger, Heinz; Teixeira, Daniel; Venkatesan, Aravind; Bateman, Alex; Bridge, Alan; Cochrane, Guy; Finn, Rob; Glöckner, Frank Oliver; Hanauer, Marc; Keane, Thomas; Leach, Andrew; Licata, Luana; Oksvold, Per; Orchard, Sandra; Orengo, Christine; Parkinson, Helen; Persson, Bengt; Porras, Pablo; Rambla, Jordi; Rath, Ana; Rodwell, Charlotte; Sarkans, Ugis; Schomburg, Dietmar; Sillitoe, Ian; Spalding, Dylan; Uhlén, Mathias; Velankar, Sameer; Vizcaíno, Juan Antonio; von Feilitzen, Kalle; von Mering, Christian; Yates, Andrew; Blomberg, Niklas; Durinx, Christine; McEntyre, Johanna
Bioinformatics. 36(8):2636-2642
Academic Journal
Academic Journal
DiStefano, Marina T.; Goehringer, Scott; Babb, Lawrence; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Austin-Tse, Christina; Balzotti, Marie; Berg, Jonathan S.; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth A.; Coffey, Alison J.; Collins, Heather; Cunningham, Fiona; Daugherty, Louise C.; Einhorn, Yaron; Firth, Helen, V; Fitzpatrick, David R.; Foulger, Rebecca E.; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew R.; Leigh, Sarah E.; Leong, Ivone U. S.; Maddirevula, Sateesh; Martin, Christa L.; McDonagh, Ellen M.; Olry, Annie; Puzriakova, Arina; Radtke, Kelly; Ramos, Erin M.; Rath, Ana; Riggs, Erin Rooney; Roberts, Angharad M.; Rodwell, Charlotte; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Tweedie, Susan; Ware, James S.; Weller, Phillip; Williams, Eleanor; Wright, Caroline F.; Yates, Thabo Michael; Rehm, Heidi L.
Academic Journal
Bruyere-Zrelli, Julie; Cruciani, Melania; Sauvage, Florence; Rodwell, Charlotte; Serriere-Lanneau, Valerie; Hanauer, Marc; Rath, Ana
Periodical
Nguengang Wakap, Stéphanie; Lambert, Deborah M.; Olry, Annie; Rodwell, Charlotte; Gueydan, Charlotte; Lanneau, Valérie; Murphy, Daniel; Le Cam, Yann; Rath, Ana
European Journal of Human Genetics: EJHG; February 2020, Vol. 28 Issue: 2 p165-173, 9p
Academic Journal
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[AR] Rodwell, Charlotte
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