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

Genetic Diagnosis of Retinoblastoma Using Aqueous Humour-Findings from an Extended Cohort

利用房水进行视网膜母细胞瘤的基因诊断——来自扩展队列的研究结果

Gerrish, Amy; Mashayamombe-Wolfgarten, Chipo; Stone, Edward; Román-Montañana, Claudia; Abbott, Joseph; Jenkinson, Helen; Millen, Gerard; Gurney, Sam; McCalla, Maureen; Staveley, Sarah-Jane; Kainth, Anu; Kirk, Maria; Bowen, Claire; Cavanagh, Susan; Bunstone, Sancha; Carney, Megan; Mohite, Ajay; Clokie, Samuel; Reddy, M Ashwin; Foster, Alison; Allen, Stephanie; Parulekar, Manoj; Cole, Trevor

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

林奇综合征相关子宫内膜肿瘤比例(PETALS):一项前瞻性横断面研究

Ryan, Neil A J; McMahon, Raymond; Tobi, Simon; Snowsill, Tristan; Esquibel, Shona; Wallace, Andrew J; Bunstone, Sancha; Bowers, Naomi; Mosneag, Ioana E; Kitson, Sarah J; O'Flynn, Helena; Ramchander, Neal C; Sivalingam, Vanitha N; Frayling, Ian M; Bolton, James; McVey, Rhona J; Evans, D Gareth; Crosbie, Emma J

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

歌舞伎综合征的遗传异质性如何?:对116例患者进行MLL2基因检测,回顾并分析突变和表型谱

Banka, Siddharth; Veeramachaneni, Ratna; Reardon, William; Howard, Emma; Bunstone, Sancha; Ragge, Nicola; Parker, Michael J; Crow, Yanick J; Kerr, Bronwyn; Kingston, Helen; Metcalfe, Kay; Chandler, Kate; Magee, Alex; Stewart, Fiona; McConnell, Vivienne P M; Donnelly, Deirdre E; Berland, Siren; Houge, Gunnar; Morton, Jenny E; Oley, Christine; Revencu, Nicole; Park, Soo-Mi; Davies, Sally J; Fry, Andrew E; Lynch, Sally Ann; Gill, Harinder; Schweiger, Susann; Lam, Wayne W K; Tolmie, John; Mohammed, Shehla N; Hobson, Emma; Smith, Audrey; Blyth, Moira; Bennett, Christopher; Vasudevan, Pradeep C; García-Miñaúr, Sixto; Henderson, Alex; Goodship, Judith; Wright, Michael J; Fisher, Richard; Gibbons, Richard; Price, Susan M; C de Silva, Deepthi; Temple, I Karen; Collins, Amanda L; Lachlan, Katherine; Elmslie, Frances; McEntagart, Meriel; Castle, Bruce; Clayton-Smith, Jill; Black, Graeme C; Donnai, Dian