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

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD

一种生殖系杂合显性负性IKZF2变异导致综合征性原发性免疫调节障碍和ICHAD

Henry Y Lu ,Maryam Vaseghi-Shanjani ,Avery J Lam ,Mehul Sharma ,Arezoo Mohajeri ,Leandro B R Silva ,Jana Gillies ,Gui Xiang Yang ,Susan Lin ,Maggie P Fu ,Areesha Salman ,Ronak Rahmanian ,Linlea Armstrong ,Jessica Halparin ,Connie L Yang ,Mark Chilvers ,Erika Henkelman ,Wingfield Rehmus ,Douglas Morrison ,Audi Setiadi ,Sara Mostafavi ,Michael S Kobor ,Frederick K Kozak ,Catherine M Biggs ,Clara van Karnebeek ,Kyla J Hildebrand ,Stuart E Turvey

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

IKZF2 中的显性负性变异会导致 ICHAD 综合征,这是一种以免疫失调、颅面畸形、听力障碍、无肌张力和发育迟缓为特征的新疾病

Mohajeri Arezoo, Vaseghi-Shanjani Maryam, Rosenfeld Jill A, Yang Gui Xiang, Lu Henry, Sharma Mehul, Lin Susan, Salman Areesha, Waqas Meriam, Sababi Azamian Mahshid, Worley Kim C, Del Bel Kate L, Kozak Frederick K, Rahmanian Ronak, Biggs Catherine M, Hildebrand Kyla J, Lalani Seema R, Nicholas Sarah K, Scott Daryl A, Mostafavi Sara, van Karnebeek Clara, Henkelman Erika, Halparin Jessica, Yang Connie L, Armstrong Linlea, Turvey Stuart E, Lehman Anna

Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma

应用基因组学鉴定复发性儿童乳头状甲状腺癌的治疗靶点

Ronsley, Rebecca; Rassekh, S Rod; Shen, Yaoqing; Lee, Anna F; Jantzen, Colleen; Halparin, Jessica; Albert, Catherine; Hawkins, Douglas S; Amed, Shazhan; Rothstein, Ralph; Mungall, Andrew J; Dix, David; Blair, Geoffrey; Nadel, Helen; Jones, Steven J M; Laskin, Janessa; Marra, Marco A; J Deyell, Rebecca

FOCUS: Future of fecal calprotectin utility study in inflammatory bowel disease

焦点:粪便钙卫蛋白在炎症性肠病中的应用前景研究

Rosenfeld, Greg; Greenup, Astrid-Jane; Round, Andrew; Takach, Oliver; Halparin, Lawrence; Saadeddin, Abid; Ho, Jin Kee; Lee, Terry; Enns, Robert; Bressler, Brian

Add-on cases in the endoscopy unit: Factors that affect volume

内镜室的加诊病例:影响病例量的因素

Segal, B; Lam, E; Amar, J; Bressler, B; Halparin, L; Ramji, A; Telford, J; Whittaker, S; Enns, R