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

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

The European Certificate in Medical Genetics and Genomics (ECMGG)

欧洲医学遗传学和基因组学证书(ECMGG)

Turnpenny, Peter D; Pölsler, Laura; Moog, Ute; Tobias, Edward S; Peron, Angela; Boonen, Susanne E; Lynch, Bonnie; Berg, Jonathan

European training requirements for the specialty of medical genetics

欧洲医学遗传学专业的培训要求

Moog, Ute; Berg, Jonathan; Kerr, Siobhan; Turnpenny, Peter D; Verloes, Alain; Zschocke, Johannes

STAG2-truncating variants reveal a mosaic STAG2 inactivation pattern and compensatory mechanisms involving cohesin complex remodeling.

STAG2 截短变体揭示了 STAG2 的嵌合失活模式和涉及黏连蛋白复合物重塑的补偿机制。

Moronta Gines Macarena, Wessels Marja W, Casa Valentina, van Staveren Thomas, Hof Amber, Chung Wendy K, Willems Marjolaine, Sandestig Anna, Huening Irina, Turnpenny Peter, Lefebvre Mathilde, Parenti Ilaria, Kaiser Frank J, Demmers Jeroen, van Ijcken Wilfred F J, Wendt Kerstin S

Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules

色素上皮衍生因子驱动神经纤维瘤病咖啡牛奶斑中的黑素细胞增殖和迁移

Charlotte Lovatt, Megan Williams, Alex Gibbs, Abdullahi Mukhtar, Huw J Morgan, Simone Lanfredini, Carlotta Olivero, Gill Spurlock, Sally Davies, Charlotte Philpott, Hannah Tovell, Peter Turnpenny, Dilair Baban, Sam Knight, Hilde Brems, Julian R Sampson, Eric Legius, Meena Upadhyaya, Girish K Patel

The Phenotypic Continuum of ATP1A3-Related Disorders

ATP1A3相关疾病的表型连续谱

Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A; Holder-Espinasse, Muriel; Fry, Andrew E; Németh, Andrea H; Tofaris, George K; Hay, Eleanor; Hughes, Imelda; Mansour, Sahar; Mordekar, Santosh R; Splitt, Miranda; Turnpenny, Peter D; Demetriou, Demetria; Koopmann, Tamara T; Ruivenkamp, Claudia A L; Agrawal, Pankaj B; Carr, Lucinda; Clowes, Virginia; Ghali, Neeti; Holder, Susan Elizabeth; Radley, Jessica; Male, Alison; Sisodiya, Sanjay M; Kurian, Manju A; Cross, J Helen; Balasubramanian, Meena

Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder

CAMSAP1双等位基因变异会导致临床上可识别的神经元迁移障碍。

Khalaf-Nazzal, Reham; Fasham, James; Inskeep, Katherine A; Blizzard, Lauren E; Leslie, Joseph S; Wakeling, Matthew N; Ubeyratna, Nishanka; Mitani, Tadahiro; Griffith, Jennifer L; Baker, Wisam; Al-Hijawi, Fida'; Keough, Karen C; Gezdirici, Alper; Pena, Loren; Spaeth, Christine G; Turnpenny, Peter D; Walsh, Joseph R; Ray, Randall; Neilson, Amber; Kouranova, Evguenia; Cui, Xiaoxia; Curiel, David T; Pehlivan, Davut; Akdemir, Zeynep Coban; Posey, Jennifer E; Lupski, James R; Dobyns, William B; Stottmann, Rolf W; Crosby, Andrew H; Baple, Emma L

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

NF1 c.2970_2972del p.(Met992del)的自然史:一项纵向研究证实其并发症风险较低

Forde, Claire; Burkitt-Wright, Emma; Turnpenny, Peter D; Haan, Eric; Ealing, John; Mansour, Sahar; Holder, Muriel; Lahiri, Nayana; Dixit, Abhijit; Procter, Annie; Pacot, Laurence; Vidaud, Dominique; Capri, Yline; Gerard, Marion; Dollfus, Hélène; Schaefer, Elise; Quelin, Chloé; Sigaudy, Sabine; Busa, Tiffany; Vera, Gabriella; Damaj, Lena; Messiaen, Ludwine; Stevenson, David A; Davies, Peter; Palmer-Smith, Sheila; Callaway, Alison; Wolkenstein, Pierre; Pasmant, Eric; Upadhyaya, Meena

Migrant Home Care Workers in the UK: a Scoping Review of Outcomes and Sustainability and Implications in the Context of Brexit

英国的移民家庭护理人员:成果和可持续性范围界定审查及其在英国脱欧背景下的影响

Turnpenny, Agnes; Hussein, Shereen

Expanding the phenotype of TAB2 variants and literature review

扩展TAB2变异体的表型及文献综述

Woods, Emily; Marson, Imogen; Coci, Emanuele; Spiller, Michael; Kumar, Ajith; Brady, Angela; Homfray, Tessa; Fisher, Richard; Turnpenny, Peter; Rankin, Julia; Kanani, Farah; Platzer, Konrad; Ververi, Athina; Emmanouilidou, Eleftheria; Bourboun, Nourxan; Giannakoulas, George; Balasubramanian, Meena