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

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

肢体异常的分子图谱:诊断率和新的候选基因

Mokhtari, Akram; Charbonneau, Jade; Miranda, Valancy; Jizi, Khadijé; Delrue, Marie-Ange; Egerszegi, Patricia; Thiffault, Isabelle; Campeau, Philippe M

A missing enzyme-rescue metabolite as cause of a rare skeletal dysplasia

缺失的酶拯救代谢物是导致罕见骨骼发育不良的原因

Jean Jacobs # ,Hristiana Lyubenova # ,Sven Potelle ,Johannes Kopp ,Isabelle Gerin ,Wing Lee Chan ,Miguel Rodriguez de Los Santos ,Wiebke Hülsemann ,Martin A Mensah ,Valérie Cormier-Daire ,Marieke Joosten ,Hennie T Bruggenwirth ,Kyra E Stuurman ,Valancy Miranda ,Philippe M Campeau ,Lars Wittler ,Julie Graff ,Stefan Mundlos ,Daniel M Ibrahim ,Emile Van Schaftingen ,Björn Fischer-Zirnsak ,Uwe Kornak ,Nadja Ehmke ,Guido T Bommer

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome

在患有西弗林-希茨-魏斯综合征的个体中发现了一种DNA甲基化谱。

Karimi, Karim; Lichtenstein, Yael; Reilly, Jack; McConkey, Haley; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; Bouman, Arjan; Symonds, Joseph D; Ghoumid, Jamal; Smol, Thomas; Clarkson, Katie; Drazba, Katy; Louie, Raymond J; Miranda, Valancy; McCann, Cathleen; Motta, Jamie; Lancaster, Emily; Sallevelt, Suzanne; Sidlow, Richard; Morrison, Jennifer; Hannibal, Mark; O'Shea, Jessica; Marin, Victor; Prasad, Chitra; Patel, Chirag; Raskin, Salmo; Maria-Noelia, Seco Moro; Diaz de Bustamante, Aranzazú; Marom, Daphna; Barkan, Tali; Keren, Boris; Poirsier, Celine; Cohen, Lior; Colin, Estelle; Gorman, Kathleen; Gallant, Emily; Menke, Leonie A; Valenzuela Palafoll, Irene; Hauser, Natalie; Wentzensen, Ingrid M; Rankin, Julia; Turnpenny, Peter D; Campeau, Philippe M; Balci, Tugce B; Tedder, Matthew L; Sadikovic, Bekim; Weiss, Karin

Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX

SHOX基因3'增强子区域不同缺失的患者表现出轻微的表型。

Miranda, Valancy; Sabeh, Pascale; Seiltgens, Cristian; Molidperee, Sirinart; Janelle, Chantal; Lemyre, Emmanuelle; Campeau, Philippe M

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report

外显子组测序发现COL9A3基因中一种新的剪接变异导致多发性骨骺发育不良:病例报告

Alnuaimi, Bashayer; Miranda, Valancy; Sbrocchi, Anne Marie; Campeau, Philippe M; Campillo, Sarah; Lahiry, Piya

Organ-sparing partial glansectomy: an alternative surgical management for invasive penile carcinoma-case report

保留器官的龟头部分切除术:侵袭性阴茎癌的一种替代手术治疗方案——病例报告

Chan, Jennida; Espinales, Jennifer; Valancy, David; Koltz, Brooke R; Petros, Firas G

The Quebec Dental Anomalies Registry: Identifying genes for rare disorders

魁北克牙齿异常登记处:识别罕见疾病的基因

Wredenhagen, Madeleine S; Goldstein, Andee; Mathieu, Hélène; Miranda, Valancy; Morali, Burcin; Santerre, Jacinthe; Maftei, Catalina; Delrue, Marie-Ange; Schmittbuhl, Matthieu; Vu, Duy Dat; Moldovan, Florina; Campeau, Philippe M

Emergency department presentation changes due to the coronavirus disease pandemic in Nova Scotia, Canada

加拿大新斯科舍省因新冠病毒疫情导致急诊科就诊流程发生变化

Dahn, Tara; Fok, Patrick T; Wiemer, Hana; Dutton, Daniel J; Cole, Valancy; Lewis, David; Liu, Tong; Brunt, Keith R; Hanlon, Robert; Fraser, Jacqueline; Vaillancourt, Chris; Atkinson, Paul

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

一例法裔加拿大家族中伴有骨脆性的颅骨环状病变:病例报告及文献综述

Basalom, Shuaa; Fiscaletti, Mélissa; Miranda, Valancy; Huber, Céline; Couture, Guillaume; Drouin, Régen; Monceau, Élise; Wavrant, Sandrine; Dubé, Johanne; Mäkitie, Outi; Cormier-Daire, Valérie; Campeau, Philippe M

Risk factors and preventive strategies for unintentionally retained surgical sharps: a systematic review

意外遗留手术锐器的风险因素和预防策略:系统评价

Weprin, Samuel; Crocerossa, Fabio; Meyer, Dielle; Maddra, Kaitlyn; Valancy, David; Osardu, Reginald; Kang, Hae Sung; Moore, Robert H; Carbonara, Umberto; J Kim, Fernando; Autorino, Riccardo