학술논문
'학술논문'
에서 검색결과 184건 | 목록
1~10
Academic Journal
Li, Binglan; Sangkuhl, Katrin; Whaley, Ryan; Woon, Mark; Keat, Karl; Whirl-Carrillo, Michelle; Ritchie, Marylyn D.; Klein, Teri E.
In The American Journal of Human Genetics 5 October 2023 110(10):1628-1647
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
Academic Journal
Verma, Shefali S.; Keat, Karl; Li, Binglan; Hoffecker, Glenda; Risman, Marjorie; Sangkuhl, Katrin; Whirl-Carrillo, Michelle; Dudek, Scott; Verma, Anurag; Klein, Teri E.; Ritchie, Marylyn D.; Tuteja, Sony; Regeneron Genetics Center (CORPORATE AUTHOR)
Academic Journal
Sangkuhl, Katrin; Whaley, Ryan; Woon, Mark; Keat, Karl; Gong, Li; Whirl-Carrillo, Michelle; Ritchie, Marylyn; Klein, Teri
In Genetics in Medicine Open 2023 1(1) Supplement
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
Turner, Amy J.; Nofziger, Charity; Ramey, Bronwyn E.; Ly, Reynold C.; Bousman, Chad A.; Agúndez, José A. G.; Sangkuhl, Katrin; Whirl‐Carrillo, Michelle; Vanoni, Simone; Dunnenberger, Henry M.; Ruaño, Gualberto; Kennedy, Martin A.; Phillips, Michael S.; Hachad, Houda; Klein, Teri E.; Moyer, Ann M.; Gaedigk, Andrea
Clinical Pharmacology & Therapeutics; Dec2023, Vol. 114 Issue 6, p1220-1237, 18p
Academic Journal
Bousman, Chad A.; Stevenson, James M.; Ramsey, Laura B.; Sangkuhl, Katrin; Hicks, J. Kevin; Strawn, Jeffrey R.; Singh, Ajeet B.; Ruaño, Gualberto; Mueller, Daniel J.; Tsermpini, Evangelia Eirini; Brown, Jacob T.; Bell, Gillian C.; Leeder, J. Steven; Gaedigk, Andrea; Scott, Stuart A.; Klein, Teri E.; Caudle, Kelly E.; Bishop, Jeffrey R.
Clinical Pharmacology & Therapeutics; Jul2023, Vol. 114 Issue 1, p51-68, 18p
Academic Journal
Ashley, Euan A; Butte, Atul J; Wheeler, Matthew T; Chen, Rong; Klein, Teri E; Dewey, Frederick E; Dudley, Joel T; Ormond, Kelly E; Pavlovic, Aleksandra; Morgan, Alexander A; Pushkarev, Dmitry; Neff, Norma F; Hudgins, Louanne; Gong, Li; Hodges, Laura M; Berlin, Dorit S; Thorn, Caroline F; Sangkuhl, Katrin; Hebert, Joan M; Woon, Mark; Sagreiya, Hersh; Whaley, Ryan; Knowles, Joshua W; Chou, Michael F; Thakuria, Joseph V; Rosenbaum, Abraham M; Zaranek, Alexander Wait; Church, George M; Greely, Henry T; Quake, Stephen R; Altman, Russ B
In The Lancet 2010 375(9725):1525-1535
Academic Journal
Li, Binglan; Sangkuhl, Katrin; Keat, Karl; Whaley, Ryan M.; Woon, Mark; Verma, Shefali; Dudek, Scott; Tuteja, Sony; Verma, Anurag; Whirl‐Carrillo, Michelle; Ritchie, Marylyn D.; Klein, Teri E.
Clinical Pharmacology & Therapeutics; May2023, Vol. 113 Issue 5, p1036-1047, 12p
Academic Journal
Ramsey, Laura B.; Gong, Li; Lee, Seung‐been; Wagner, Jonathan B.; Zhou, Xujia; Sangkuhl, Katrin; Adams, Solomon M.; Straka, Robert J.; Empey, Philip E.; Boone, Erin C.; Klein, Teri E.; Niemi, Mikko; Gaedigk, Andrea
Clinical Pharmacology & Therapeutics; Apr2023, Vol. 113 Issue 4, p782-793, 12p
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[AR] Sangkuhl, Katrin
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