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

Author Correction: Complex de novo structural variants are an underestimated cause of rare disorders

作者更正:复杂的新生结构变异是罕见疾病的一个被低估的原因。

Jung, Hyunchul; Yang, Tsun-Po; Walker, Susan; Danecek, Petr; Garcia-Salinas, O Isaac; Neville, Matthew D C; Christopher, Joseph; Cortés-Ciriano, Isidro; Firth, Helen; Scally, Aylwyn; Hurles, Matthew; Campbell, Peter; Rahbari, Raheleh

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

从连续体的角度考虑遗传性癌症风险:国际和多学科视角:美国医学遗传学和基因组学学会 (ACMG) 的考虑要点声明

Pal, Tuya; Christopher, Joseph; Astiazaran-Symonds, Esteban; Foulkes, William D; James, Paul; Klugman, Susan; Kurian, Allison; Mak, Julie; Monteiro, Alvaro; Robson, Mark; Tischkowitz, Marc; Stewart, Douglas R; Hanson, Helen

Neck migration of a K-wire following fixation of clavicle fracture: a case report

锁骨骨折固定术后克氏针颈部移位:病例报告

Sumbizi, Clarence; Hassan, Orujul; Ali, Athar; Mwansasu, Christopher; Joseph, Alex; Rajput, Irfan

Early Mobilization Outcomes With Tenecteplase Treatment in Acute Ischemic Stroke (EMOTE-TNK) Study: Safety and Tolerability

急性缺血性卒中患者早期活动能力评估(EMOTE-TNK)研究:安全性和耐受性

Reyes, Isabelle Delos; Ghosh, Saptarshi; Boykin, Olivia; Vega, Carlos Perez; Yelvington, Christopher Joseph; Worsowicz, Greg M; Hodge, David O; Franco, Pablo Moreno; Mooney, Lesia H; Freeman, William D

Complex de novo structural variants are an underestimated cause of rare disorders

复杂的新生结构变异是罕见疾病的一个被低估的原因。

Jung, Hyunchul; Yang, Tsun-Po; Walker, Susan; Danecek, Petr; Garcia-Salinas, O Isaac; Neville, Matthew D C; Christopher, Joseph; Cortés-Ciriano, Isidro; Firth, Helen; Scally, Aylwyn; Hurles, Matthew; Campbell, Peter; Rahbari, Raheleh

The association between one's social life and symptoms of prolonged grief following a traumatic loss: an ecological momentary assessment study

社会生活与创伤性丧失后持续性悲伤症状之间的关联:一项生态瞬时评估研究

Specker, Philippa; Pociūnaitė-Ott, Justina; Rosenblum, Ariela Lev; Marcolini, Sofia; Waschnig, Pascale; Magoon, Christopher; Joseph, Annie-Lori; Nijborg, Lieke C J; Pan, Xi; Lenferink, Lonneke I M

Recontact and follow-up for individuals with germline pathogenic variants in hereditary breast and ovarian cancer susceptibility genes: a UK Cancer Genetics Group consensus meeting

对携带遗传性乳腺癌和卵巢癌易感基因种系致病变异的个体进行再联系和随访:英国癌症遗传学小组共识会议

Christopher, Joseph; Edgerley, Katharine; McIldowie, Beth; Jewell, Rosalyn; Kemp, Zoe; Snape, Katie; Hanson, Helen

Antenatal Pulmonary Hypoplasia Expands the Variety of Phenotypes Associated With MED12-Related Disorders

产前肺发育不全扩大了与MED12相关疾病相关的表型种类

Ramachandran, Vijaya; Chandler, Natalie J; Gibbs, Alexander; Whitby, Elspeth; Braham, Ruth; Christopher, Joseph; Mehta, Sarju G

CNDP2: An Enzyme Linking Metabolism and Cardiovascular Diseases?

CNDP2:一种连接代谢和心血管疾病的酶?

Ocariza, Moizle Grace Castro; Paton, Louise Nancy; Templeton, Evelyn Mary; Pemberton, Christopher Joseph; Pilbrow, Anna Pauline; Appleby, Sarah

Genetic basis and imaging findings of neurofibromatosis 1 and other somatic overgrowth disorders

神经纤维瘤病1型及其他躯体过度生长疾病的遗传基础和影像学表现

Vittay, Orsolya; Christopher, Joseph; Mehta, Sarju G; Toms, Andoni P