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

ACP4 Variants in Hypoplastic Amelogenesis Imperfecta

釉质发育不全症中的 ACP4 变异

Liu, Lu; Au, Cheuk Wang; Hany, Ummey; Rigby, Alice L; Chauhan, Anesha; Brown, Catriona; Sims, Jessie; Murillo, Gina; Acosta de Carmargo, Marìa Gabriela; Inglehearn, Chris F; Watson, Christopher M; Mighell, Alan J; Smith, Claire E L

Burden of hereditary enamel disorders

遗传性牙釉质疾病的负担

Bomfim, Guilherme H S; Dupont, Geneviève; Wright, Timothy; Mighell, Alan; Lacruz, Rodrigo S

A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR

一种小分子稳定剂可以挽救GPCR中几乎所有错义变体的表面表达。

Mighell, Taylor L; Lehner, Ben

Author Correction: A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR

作者更正:一种小分子稳定剂可以挽救GPCR中几乎所有错义变体的表面表达。

Mighell, Taylor L; Lehner, Ben

Engineering multispecific antibodies with complete killing selectivity through the closed-loop integration of machine learning and high-throughput experimentation

通过机器学习和高通量实验的闭环整合,设计具有完全杀伤选择性的多特异性抗体

Grace, Justin; Colin, Pierre-Yves; Foxler, Dan; Haynes, Winston; Howsham, Catherine; Kassimatis, Leo; Mavrogonatou, Lida; Mighell, Rebecca; McClory, James; Mullin, Michael; Ogola, Tom; Townsend, Alex; Ravi, Sujata; Wossnig, Leo; van Heeke, Gino

Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci

利用定制的smMIP试剂对非综合征型牙釉质发育不全患者队列进行基因筛查,以选择性富集目标基因位点

Hany, Ummey; Watson, Christopher M; Liu, Lu; Nikolopoulos, Georgios; Smith, Claire E L; Poulter, James A; Antanaviciute, Agne; Rigby, Alice; Balmer, Richard; Brown, Catriona J; Patel, Anesha; de Camargo, María Gabriela Acosta; Rodd, Helen D; Moffat, Michelle; Murillo, Gina; Mudawi, Amal; Jafri, Hussain; Mighell, Alan J; Inglehearn, Chris F

The Subscapularis-Sparing Windowed Anterior Technique (SWAT) for Anatomic Total Shoulder Arthroplasty

肩胛下肌保留开窗前路解剖型全肩关节置换术

Smith, Austin F; Sirignano, Michael N; Schmidt, Christian M 2nd; Mighell, Mark A

Debridement Technique for Single-Stage Revision Shoulder Arthroplasty

单阶段翻修肩关节置换术的清创技术

Kolakowski, Logan; Stadecker, Monica; Givens, Justin; Schmidt, Christian 2nd; Mighell, Mark; Christmas, Kaitlyn; Frankle, Mark

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

COL17A1杂合变异是牙釉质发育不全的常见病因。

Hany, Ummey; Watson, Christopher M; Liu, Lu; Smith, Claire E L; Harfoush, Asmaa; Poulter, James A; Nikolopoulos, Georgios; Balmer, Richard; Brown, Catriona J; Patel, Anesha; Simmonds, Jenny; Charlton, Ruth; Acosta de Camargo, María Gabriela; Rodd, Helen D; Jafri, Hussain; Antanaviciute, Agne; Moffat, Michelle; Al-Jawad, Maisoon; Inglehearn, Chris F; Mighell, Alan J

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Plexin B2 (PLXNB2) 基因的双等位基因变异会导致牙釉质发育不全、听力丧失和智力障碍。

Smith, Claire E L; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L; Poulter, James A; Wortmann, Saskia B; Feichtinger, Rene G; Mayr, Johannes A; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C; Watson, Christopher M; Mansour, Sahar; Inglehearn, Chris F; Mighell, Alan J; Bloch-Zupan, Agnès