日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating PITX2 from a conserved enhancer locus

与PITX2基因和保守增强子位点分离的兆碱基尺度倒位相关的Axenfeld-Rieger综合征

Mitchell, Lucas A; Schmidt, Joshua; Souzeau, Emmanuelle; Knight, Lachlan S W; Maxwell, Giorgina; Dubowsky, Andrew; Lim, Ridia; Formaini, Edward; Welland, Matthew; Simons, Cas; MacArthur, Daniel G; Wiggs, Janey L; Craig, Jamie E; Siggs, Owen M

Glenoid baseplate fixation using hybrid configurations of locked and unlocked peripheral screws

采用锁定和非锁定周边螺钉混合配置的肩胛盂基板固定

Formaini, Nathan T; Everding, Nathan G; Levy, Jonathan C; Santoni, Brandon G; Nayak, Aniruddh N; Wilson, Cooper

Gas gangrene as a result of femoral traction pin placement

股骨牵引钉植入引起的气性坏疽

Taylor, Benjamin C; Bramwell, Thomas J; Formaini, Nathan