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

Dysphagia Outcomes in Zenker Diverticulum: A Longitudinal POuCH Study

Zenker憩室吞咽困难的预后:一项纵向POuCH研究

Schuman, Ari D; McKeon, Mallory; Allen, Jacqui; Altaye, Mekibib; Amin, Milan R; Bayan, Semirra L; Belafsky, Peter C; Bock, Jonathan M; DeSilva, Brad W; Dion, Greg; Ekbom, Dale C; Friedman, Aaron D; Fritz, Mark; Guardiani, Elizabeth A; Johnson, Christopher; Kasperbauer, Jan; Kim, Brandon; Krekeler, Brittany N; Kuhn, Maggie; Kwak, Paul; Ma, Yue; Madden, Lyndsay L; Matrka, Laura; Mayerhoff, Ross M; Piraka, Cyrus; Rosen, Clark; Tabangin, Meredith; Wilson, Keith; Young, Vyvy N; Postma, Gregory; Howell, Rebecca J

Integrated multi-omics for rapid rare disease diagnosis on a national scale

综合多组学,在全国范围内快速诊断罕见疾病

Sebastian Lunke, Sophie E Bouffler, Chirag V Patel, Sarah A Sandaradura, Meredith Wilson, Jason Pinner, Matthew F Hunter, Christopher P Barnett, Mathew Wallis, Benjamin Kamien, Tiong Y Tan, Mary-Louise Freckmann, Belinda Chong, Dean Phelan, David Francis, Karin S Kassahn, Thuong Ha, Song Gao, Peer A

Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita

种系胸苷酸合酶缺乏影响核苷酸代谢并导致先天性角化不良

Hemanth Tummala, Amanda Walne, Roberto Buccafusca, Jenna Alnajar, Anita Szabo, Peter Robinson, Allyn McConkie-Rosell, Meredith Wilson, Suzanne Crowley, Veronica Kinsler, Anna-Maria Ewins, Pradeepa M Madapura, Manthan Patel, Nikolas Pontikos, Veryan Codd, Tom Vulliamy, Inderjeet Dokal

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

影响 DNA 甲基化和人类印迹障碍(贝克威斯-维德曼综合征)的遗传变异

Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Haye