학술논문
'학술논문'
에서 검색결과 7건 | 목록
1~10
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
Academic Journal
Balzotti, Marie; Meng, Linyan; Muzzey, Dale; Johansen Taber, Katherine; Beauchamp, Kyle; Curation Team, Myriad Genetics; Curation Team, Baylor Genetics; Mar‐Heyming, Rebecca; Buckley, Bethany; Moyer, Krista
Human Mutation; Aug2020, Vol. 41 Issue 8, p1365-1371, 7p
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
DiStefano, Marina; Goehringer, Scott; Amberger, Joanna; Tse, Christina Austin; Balzotti, Marie; Berg, Jonathan; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth; Coffey, Alison; Collins, Heather; Cunningham, Fiona; Firth, Helen; Fitzpatrick, David; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew; Leigh, Sarah; Leong, Ivone; Martin, Christa
Academic Journal
Balzotti, Marie; Meng, Linyan; Muzzey, Dale; Johansen Taber, Katherine; Beauchamp, Kyle; Curation Team, Myriad Genetics; Curation Team, Baylor Genetics; Mar‐Heyming, Rebecca; Buckley, Bethany; Moyer, Krista
Human Mutation; Aug2020, Vol. 41 Issue 8, piii-iii, 1p
Academic Journal
DiStefano, Marina; Goehringer, Scott; Amberger, Joanna; Tse, Christina Austin; Balzotti, Marie; Berg, Jonathan; Birney, Ewan; Bocchini, Carol; Bruford, Elspeth; Coffey, Alison; Collins, Heather; Cunningham, Fiona; Firth, Helen; Fitzpatrick, David; Goldstein, Jennifer; Hamosh, Ada; Hurles, Matthew; Leigh, Sarah; Leong, Ivone; Martin, Christa; McDonagh, Ellen; Puzriakova, Arina; Olry, Annie; Rath, Ana; Roberts, Angharad; Radtke, Kelly; Ramos, Erin; Riggs, Erin; Rodwell, Charlotte; Snow, Catherine; Stark, Zornitza; Tahiliani, Jackie; Ware, James; Williams, Eleanor; Wright, Caroline; Yates, Michael; Rehm, Heidi
검색 결과 제한하기
제한된 항목
[AR] Balzotti, Marie
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어