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

Spatial transcriptomics of retinoblastoma: a visual window on intra-patient heterogeneity.

视网膜母细胞瘤的空间转录组学:揭示患者内部异质性的视觉窗口

Moulin A P, Thevenet J, Mazzeo L, Tissot S, Stathopoulos C, Munier F L, Berger A

Retinocytoma Undergoing Retinoblastoma Transformation in an Adult Patient

成人患者视网膜细胞瘤向视网膜母细胞瘤转化

Navaratnam, J; Faber, R; Eide, N; Lund-Iversen, M; Garred, Ø; Munier, F L

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

伊朗一个家族中发现一种新的GJA8基因突变,该家族患有进行性常染色体显性遗传性先天性核性白内障

Willoughby, C E; Arab, Sara; Gandhi, R; Zeinali, S; Arab, Seddigheh; Luk, D; Billingsley, G; Munier, F L; Héon, E

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22

一种进行性常染色体隐性遗传性白内障基因位点定位于9q13-q22染色体区域。

Héon, E; Paterson, A D; Fraser, M; Billingsley, G; Priston, M; Balmer, A; Schorderet, D F; Verner, A; Hudson, T J; Munier, F L

Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis

通过体质性和单精子突变分析,证实了假性低外显率遗传性视网膜母细胞瘤中存在体细胞和生殖细胞嵌合现象。

Munier, F L; Thonney, F; Girardet, A; Balmer, A; Claustre, M; Pellestor, F; Senn, A; Pescia, G; Schorderet, D F