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

From stress to strength: mechanotransducing poly(aneu)ploidy into a community-level advantage in cancer

从压力到优势:将多倍体(非整倍体)机械转导转化为癌症中的群体优势

Herrera-Fernández, Víctor; Dremsek, Paul; Hengstschläger, Markus; Lomakin, Alexis J

DUCKS4: a comprehensive workflow for Nanopore sequencing analysis of facioscapulohumeral muscular dystrophy (FSHD)

DUCKS4:用于面肩肱型肌营养不良症 (FSHD) 纳米孔测序分析的综合工作流程

Löwenstern, Tamara; Madritsch, Silvia; Horner, David; Brait, Nadja; Güleray Lafci, Naz; Schachner, Anna; Gerykova Bujalkova, Maria; Kałużewski, Tadeusz; Szyld, Pawel; Hengstschläger, Markus; Dremsek, Paul; Laccone, Franco

TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome

TMC6/8相关疣状表皮发育不良:种系变异和皮肤癌易感综合征中的复杂结构改变

Ceren Damla Durmaz #,Naz Güleray Lafcı #,Dilsu Dicle Erkan,Ömer Çağrı Akçin,Nesibe Bulut,Fatih Kuş,Deniz Ateş Özdemir,Jürgen Neesen,Paul Dremsek,Ömer Dizdar

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

OMKar利用光学图谱自动进行基因组核型分析,以识别先天性异常。

Raeisi Dehkordi, Siavash; Jia, Zhaoyang; Estabrook, Joey; Hauenstein, Jen; Miller, Neil; Güleray-Lafci, Naz; Neesen, Jürgen; Hastie, Alex; Chaubey, Alka; Wing Chun Pang, Andy; Dremsek, Paul; Bafna, Vineet

Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics

光学基因组图谱作为遗传诊断后续方法的实用性回顾性研究

Dremsek, Paul; Schachner, Anna; Reischer, Theresa; Krampl-Bettelheim, Elisabeth; Bettelheim, Dieter; Vrabel, Sybille; Delissen, Zoja; Pfeifer, Mateja; Weil, Beatrix; Bajtela, Robert; Hengstschläger, Markus; Laccone, Franco; Neesen, Jürgen

Outcomes of Pregnancies with Absent or Hypoplastic Fetal Nasal Bone: A Retrospective Analysis of Prenatal Findings and Perinatal Outcomes

胎儿鼻骨缺失或发育不全妊娠结局:产前检查结果和围产期结局的回顾性分析

Karner, Eva; Krepler, Lara; Pateisky, Petra; Grill, Agnes; Dremsek, Paul; Yerlikaya-Schatten, Guelen; Springer, Stephanie

Clinical course and perinatal management of fetuses and newborns affected by trisomy 13 and 18: a retrospective single-centre cohort study

13三体综合征和18三体综合征胎儿及新生儿的临床病程和围产期管理:一项回顾性单中心队列研究

Reischer, Theresa; Dorittke, Tim; Klebermaß-Schrehof, Katrin; Berger, Angelika; Dremsek, Paul; Ragossnig, Julia; Höfinger, Paula; Yerlikaya-Schatten, Gülen

OMKar: optical map based automated karyotyping of genomes to identify constitutional abnormalities

OMKar:基于光学图谱的基因组自动核型分析,用于识别先天性异常

Dehkordi, Siavash Raeisi; Jia, Zhaoyang; Estabrook, Joey; Hauenstein, Jen; Miller, Neil; Güleray-Lafci, Naz; Neesen, Jürgen; Hastie, Alex; Chaubey, Alka; Pang, Andy Wing Chun; Dremsek, Paul; Bafna, Vineet

A broadly cross-reactive monoclonal antibody against hepatitis E virus capsid antigen

针对戊型肝炎病毒衣壳抗原的广泛交叉反应单克隆抗体

Barbara Kubickova, Jörg A Schenk, Franziska Ramm, Kornelija Markuškienė, Jochen Reetz, Paul Dremsek, Paulius Lukas Tamosiunas, Laima Cepulyte, Hoai Anh Trinh, Johannes Scholz, Henry Memczak, Marc Hovestädt, René Ryll, Rasa Petraityte-Burneikiene, Victor M Corman, Anika Andersson, Dietmar Becher, Mar

Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations

光学基因组图谱在常规人类遗传诊断中的应用——其优势与局限性

Dremsek, Paul; Schwarz, Thomas; Weil, Beatrix; Malashka, Alina; Laccone, Franco; Neesen, Jürgen