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

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach

通过逐步诊断方法揭示先天性椎体畸形的遗传基础

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms27041752
Szoszkiewicz, Anna; Sowińska-Seidler, Anna; Wnuk-Kłosińska, Aleksandra; Bukowska-Olech, Ewelina; Biel, Karolina; Matuszewska, Karolina; Biel, Marcin; Badura-Stronka, Magdalena; Glazar, Renata; Jakubiuk-Tomaszuk, Anna; Krawczyński, Maciej; Szczałuba, Krzysztof; Śledzińska, Karolina; Wiśniewska, Marzena; Jamsheer, Aleksander
发表日期：2026
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The role of pharmacogenetics in the therapy regimen of acute lymphoblastic leukemia in children: recent discoveries and future perspectives

药物遗传学在儿童急性淋巴细胞白血病治疗方案中的作用：最新发现与未来展望

期刊:Pharmacological Reports
影响因子:3.8
doi:10.1007/s43440-025-00818-2
Szoszkiewicz, Anna; Światłowska, Alina; Derwich, Katarzyna; Jamsheer, Aleksander; Rubiś, Błażej; Bienert, Agnieszka
白血病
细胞生物学
发表日期：2026
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Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies

进行性骨化性纤维发育不良：波兰患者队列的遗传和临床特征及潜在疗法综述

期刊:Journal of Applied Genetics
影响因子:1.9
doi:10.1007/s13353-025-00966-4
Szoszkiewicz, Anna; Szczepanek, Małgorzata; Bukowska-Olech, Ewelina; Sowińska-Seidler, Anna; Socha, Magdalena; Jamsheer, Aleksander
发育与干细胞
发表日期：2026
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Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty

一名患有无肢型坎波梅利畸形和青春期发育不全的46,XY女孩，其SOX9基因上游缺失

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04125-0
Szoszkiewicz, Anna; Bukowska-Olech, Ewelina; Kurzawa, Paweł; Sowińska-Seidler, Anna; Niedziela, Marek; Kolesińska, Zofia; Jamsheer, Aleksander
发育与干细胞
SOX
SOX9
发表日期：2025
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Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.

FGFR1 p.Cys277Tyr 变异的家族内表型变异：病例报告和文献综述

期刊:Genes
影响因子:2.8
doi:10.3390/genes16050495
Szoszkiewicz Anna, Sowińska-Seidler Anna, Gruca-Stryjak Karolina, Jamsheer Aleksander
其它
发表日期：2025
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Molecular landscape of congenital vertebral malformations: recent discoveries and future directions

先天性椎体畸形的分子图谱：最新发现与未来方向

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03040-0
Szoszkiewicz, Anna; Bukowska-Olech, Ewelina; Jamsheer, Aleksander
发表日期：2024
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A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus

型手足裂畸形的基因型-表型相关性：7q21.3 基因座内表型亚区的进一步细化

期刊:Frontiers in Molecular Biosciences
影响因子:3.9
doi:10.3389/fmolb.2023.1250714
Anna Sowińska-Seidler, Magdalena Socha, Anna Szoszkiewicz, Anna Materna-Kiryluk, Aleksander Jamsheer
信号转导
发表日期：2023
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A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome

一例纯新生16p13.3重复和扩增导致股骨发育不全、精神运动发育迟缓、心脏缺陷和面部畸形的患者——病例报告及16p13.3部分三体综合征的文献综述

期刊:Journal of Applied Genetics
影响因子:1.9
doi:10.1007/s13353-022-00743-7
Socha, Magdalena; Szoszkiewicz, Anna; Simon, Dorota; Jamsheer, Aleksander
发育与干细胞
发表日期：2023
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