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

Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.

因新型甲状旁腺激素受体 1 型突变引起的甲状旁腺激素抵抗的 Eiken 综合征:临床特征和功能分析

Calder Alistair D, Allgrove Jeremy, Höppner Jakob, Cheung Moira, Alexander Saji, Garagnani Lorenzo, Thakker Rajesh, Jüppner Harald, Gardella Thomas J, Holder-Espinasse Muriel

Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project

利用基因组测序寻找隐匿的二次突变:对参与“十万基因组计划”的31例病例的分析

Moore, A Rachel; Yu, Jing; Pei, Yang; Cheng, Emily W Y; Taylor Tavares, Ana Lisa; Walker, Woolf T; Thomas, N Simon; Kamath, Arveen; Ibitoye, Rita; Josifova, Dragana; Wilsdon, Anna; Ross, Alison; Calder, Alistair D; Offiah, Amaka C; Wilkie, Andrew O M; Taylor, Jenny C; Pagnamenta, Alistair T

Variable skeletal phenotypes associated with biallelic variants in PRKG2

PRKG2基因双等位基因变异与多种骨骼表型相关

Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Robinow综合征的新型致病变异及定量表型分析:WNT信号通路扰动与表型变异

Zhang, Chaofan; Jolly, Angad; Shayota, Brian J; Mazzeu, Juliana F; Du, Haowei; Dawood, Moez; Soper, Patricia Celestino; Ramalho de Lima, Ariadne; Ferreira, Bárbara Merfort; Coban-Akdemir, Zeynep; White, Janson; Shears, Deborah; Thomson, Fraser Robert; Douglas, Sarah Louise; Wainwright, Andrew; Bailey, Kathryn; Wordsworth, Paul; Oldridge, Mike; Lester, Tracy; Calder, Alistair D; Dumic, Katja; Banka, Siddharth; Donnai, Dian; Jhangiani, Shalini N; Potocki, Lorraine; Chung, Wendy K; Mora, Sara; Northrup, Hope; Ashfaq, Myla; Rosenfeld, Jill A; Mason, Kati; Pollack, Lynda C; McConkie-Rosell, Allyn; Kelly, Wei; McDonald, Marie; Hauser, Natalie S; Leahy, Peter; Powell, Cynthia M; Boy, Raquel; Honjo, Rachel Sayuri; Kok, Fernando; Martelli, Lucia R; Filho, Vicente Odone; Genomics England Research Consortium; Muzny, Donna M; Gibbs, Richard A; Posey, Jennifer E; Liu, Pengfei; Lupski, James R; Sutton, V Reid; Carvalho, Claudia M B

Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant

科萨基过度生长综合征:一例携带新型PDGFRB变异的家族病例报告

Mutlu Albayrak, Hatice; Calder, Alistair D

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

放射基因组学时代罕见骨骼发育不良的诊断率

Sabir, Ataf H; Morley, Elizabeth; Sheikh, Jameela; Calder, Alistair D; Beleza-Meireles, Ana; Cheung, Moira S; Cocca, Alessandra; Jansson, Mattias; Lillis, Suzanne; Patel, Yogen; Yau, Shu; Hall, Christine M; Offiah, Amaka C; Irving, Melita

Micro-CT of tracheal stenosis in trisomy 21

21三体综合征气管狭窄的微型CT检查

Shelmerdine, Susan C; Ashworth, Michael T; Calder, Alistair D; Muthialu, Nagarajan; Arthurs, Owen J

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

一个三代家族患有干骺端发育不良、上颌发育不全和短指(趾)畸形(MDMHB),由RUNX2基因内重复引起

Al-Yassin, Amina; Calder, Alistair D; Harrison, Mike; Lester, Tracy; Lord, Helen; Oldridge, Michael; Watkins, Sophie; Keen, Richard; Wakeling, Emma L

3D printing from microfocus computed tomography (micro-CT) in human specimens: education and future implications

利用微焦点计算机断层扫描(micro-CT)技术对人体标本进行3D打印:教育意义及未来展望

Shelmerdine, Susan C; Simcock, Ian C; Hutchinson, John Ciaran; Aughwane, Rosalind; Melbourne, Andrew; Nikitichev, Daniil I; Ong, Ju-Ling; Borghi, Alessandro; Cole, Garrard; Kingham, Emilia; Calder, Alistair D; Capelli, Claudio; Akhtar, Aadam; Cook, Andrew C; Schievano, Silvia; David, Anna; Ourselin, Sebastian; Sebire, Neil J; Arthurs, Owen J

Button battery ingestion in children-a potentially catastrophic event of which all radiologists must be aware

儿童误吞纽扣电池——所有放射科医生都必须了解的潜在灾难性事件

Semple, Thomas; Calder, Alistair D; Ramaswamy, Madhavan; McHugh, Kieran