학술논문
'학술논문'
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1~10
Academic Journal
Jackson, Suellen; Freeman, Rebecca; Noronha, Adriana; Jamil, Hafsah; Chavez, Eric; Carmichael, Jason; Ruiz, Kaylee M.; Miller, Christine; Benke, Sarah; Perrot, Rosalie; Hockley, Maryam; Murphy, Kady; Casillan, Aimiel; Radanovich, Lily; Deforest, Roger; Nunes, Mark E.; Galarreta‐Aima, Carolina; Sidlow, Richard; Einhorn, Yaron; Woods, Jeremy
American Journal of Medical Genetics. Part A; May2024, Vol. 194 Issue 5, p1-9, 9p
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
Academic Journal
Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Trad, Marie; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; Walther van Olden, Rudolf; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Gross, Edith; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda; Ferlini, Alessandra
PLoS ONE. November 22, 2023, Vol. 18 Issue 11, e0293503
Academic Journal
Ferlini, Alessandra; Gross, Edith Sky; Garnier, Nicolas; Berghout, Joanne; Zygmunt, Aldona; Singh, Deependra; Huang, Kui A.; Kantz, Waltraud; Blankart, Carl Rudolf; Gillner, Sandra; Zhao, Jiawei; Roettger, Richard; Saier, Christina; Kirschner, Jan; Schenk, Joern; Atkins, Leon; Ryan, Nuala; Zarakowska, Kaja; Zschüntzsch, Jana; Zuccolo, Michela; Müllenborn, Matthias; Man, Yuen-Sum; Goodman, Liz; Lysogene, Marie Trad; Chalandon, Anne Sophie; Sansen, Stefaan; Martinez-Fresno, Maria; Badger, Shirlene; van Olden, Rudolf Walther; Rothmann, Robert; Lehner, Patrick; Tschohl, Christof; Baillon, Ludovic; Gumus, Gulcin; Stefanov, Rumen; Iskrov, Georgi; Raycheva, Ralitsa; Kostadinov, Kostadin; Stefanov, Georgi; Mitova, Elena; Einhorn, Moshe; Einhorn, Yaron; Schepers, Josef; Hübner, Miriam; Alves, Frauke; Iskandar, Rowan; Mayer, Rudolf; Renieri, Alessandra; Piperkova, Aneta; Gut, Ivo; Beltran, Sergi; Matthiesen, Mads Emil; Poetz, Marion; Hansson, Mats; Trollmann, Regina; Agolini, Emanuele; Ottombrino, Silvia; Novelli, Antonio; Bertini, Enrico; Selvatici, Rita; Farnè, Marianna; Fortunato, Fernanda
Orphanet Journal of Rare Diseases. October 4, 2023, Vol. 18 Issue 1
Academic Journal
In Cancer Genetics November 2022 268-269 Supplement 1:5-5
Academic Journal
Einhorn, Yaron; Einhorn, Moshe; Kurolap, Alina; Steinberg, Dror; Mory, Adi; Bazak, Lily; Paperna, Tamar; Grinshpun-Cohen, Julia; Basel-Salmon, Lina; Weiss, Karin; Singer, Amihood; Yaron, Yuval; Baris Feldman, Hagit
Human Genomics. 17(1)
Academic Journal
Rodrigues, Eliete da S.; Griffith, Sean; Martin, Renan; Antonescu, Corina; Posey, Jennifer E.; Coban‐Akdemir, Zeynep; Jhangiani, Shalini N.; Doheny, Kimberly F.; Lupski, James R.; Valle, David; Bamshad, Michael J.; Hamosh, Ada; Sheffer, Assaf; Chong, Jessica X.; Einhorn, Yaron; Cupak, Miro; Sobreira, Nara
Human Mutation; Jun2022, Vol. 43 Issue 6, p782-790, 9p
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
Guemez-Gamboa, Alicia; Caglayan, Ahmet Okay; Stanley, Valentina; Gregor, Anne; Zaki, Maha S.; Saleem, Sahar N.; Musaev, Damir; McEvoy-Venneri, Jennifer; Belandres, Denice; Akizu, Naiara; Silhavy, Jennifer L.; Schroth, Jana; Rosti, Rasim Ozgur; Copeland, Brett; Lewis, Steven M.; Fang, Rebecca; Issa, Mahmoud Y.; Per, Huseyin; Gumus, Hakan; Bayram, Ayse Kacar; Kumandas, Sefer; Akgumus, Gozde Tugce; Erson-Omay, Emine Z.; Yasuno, Katsuhito; Bilguvar, Kaya; Heimer, Gali; Pillar, Nir; Shomron, Noam; Weissglas-Volkov, Daphna; Porat, Yuval; Einhorn, Yaron; Gabriel, Stacey; Ben-Zeev, Bruria; Gunel, Murat; Gleeson, Joseph G.
Academic Journal
Einhorn, Yaron; Einhorn, Moshe; Yaron, Yuval; Steinberg, Dror; Henig, Noa; Mory, Adi; Bazak, Lily; Tsur, Erez; Weiss, Karin; Paperna, Tamar; Grinshpun-Cohen, Julia; Singer, Amihood; Basel-Salmon, Lina; Feldman, Hagit Baris
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