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

SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers

SDHAF2 相关转移性副神经节瘤:一份对致病性 SDHAF2 变异携带者的咨询和随访具有指导意义的病例报告

Monique A M de Jong, Eleonora P M Corssmit, Jeroen C Jansen, Thomas P Potjer, Jean-Pierre L Bayley, Erik F Hensen

Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma

46个SNP多基因风险评分与荷兰家族性黑色素瘤患者黑色素瘤风险之间的关联

Thomas P Potjer ,Tara W J van der Grinten ,Inge M M Lakeman ,Sander H Bollen ,Mar Rodríguez-Girondo ,Mark M Iles ,Jennifer H Barrett ,Lambertus A Kiemeney ,Nelleke A Gruis ,Christi J van Asperen ,Nienke van der Stoep

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families

对一大群荷兰非CDKN2A/CDK4黑色素瘤家族进行多基因panel测序,检测已知的和候选的黑色素瘤易感基因。

Thomas P Potjer ,Sander Bollen ,Anneliese J E M Grimbergen ,Remco van Doorn ,Nelleke A Gruis ,Christi J van Asperen ,Frederik J Hes ,Nienke van der Stoep

Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans

细胞周期控制基因 CDKN2A 的功能丧失突变对人类葡萄糖稳态的影响

Aparna Pal, Thomas P Potjer, Soren K Thomsen, Hui Jin Ng, Amy Barrett, Raphael Scharfmann, Tim J James, D Timothy Bishop, Fredrik Karpe, Ian F Godsland, Hans F A Vasen, Julia Newton-Bishop, Hanno Pijl, Mark I McCarthy, Anna L Gloyn