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

Novel compound heterozygous FAM20C variants cause Raine syndrome - retrospective prenatal diagnosis and literature review

新型复合杂合FAM20C变异导致雷恩综合征——回顾性产前诊断和文献综述

Lazarczyk, Ewelina; Pilarska-Deltow, Maria; Sowinska-Seidler, Anna; Repczynska, Anna; Drozniewska, Malgorzata; Jamsheer, Aleksander; Zdrojewska, Agata; Pasinska, Magdalena; Haus, Olga

New Insights into the Fanconi Anemia Pathogenesis: A Crosstalk Between Inflammation and Oxidative Stress

范可尼贫血发病机制的新见解:炎症与氧化应激之间的相互作用

Repczynska, Anna; Ciastek, Barbara; Haus, Olga

Rapid shifting of a deep magmatic source at Fagradalsfjall volcano, Iceland

冰岛法格拉达尔斯火山深部岩浆源的快速移动

Halldórsson, Sæmundur A; Marshall, Edward W; Caracciolo, Alberto; Matthews, Simon; Bali, Enikő; Rasmussen, Maja B; Ranta, Eemu; Robin, Jóhann Gunnarsson; Guðfinnsson, Guðmundur H; Sigmarsson, Olgeir; Maclennan, John; Jackson, Matthew G; Whitehouse, Martin J; Jeon, Heejin; van der Meer, Quinten H A; Mibei, Geoffrey K; Kalliokoski, Maarit H; Repczynska, Maria M; Rúnarsdóttir, Rebekka Hlín; Sigurðsson, Gylfi; Pfeffer, Melissa Anne; Scott, Samuel W; Kjartansdóttir, Ríkey; Kleine, Barbara I; Oppenheimer, Clive; Aiuppa, Alessandro; Ilyinskaya, Evgenia; Bitetto, Marcello; Giudice, Gaetano; Stefánsson, Andri

Next-generation sequencing reveals novel variants and large deletion in FANCA gene in Polish family with Fanconi anemia

下一代测序揭示了患有范可尼贫血症的波兰家庭中 FANCA 基因的新变异和大面积缺失

Anna Repczynska, Katarzyna Julga, Jolanta Skalska-Sadowska, Magdalena M Kacprzak, Alicja Bartoszewska-Kubiak, Ewelina Lazarczyk, Damian Loska, Malgorzata Drozniewska, Kamila Czerska, Jacek Wachowiak, Olga Haus

Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population - case report

波兰首例完全确诊的范康尼贫血患者出现新型 FANCA 突变 - 病例报告

Anna Repczynska, Agata Pastorczak, Katarzyna Babol-Pokora, Jolanta Skalska-Sadowska, Malgorzata Drozniewska, Wojciech Mlynarski, Olga Haus