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

Functional footprints of homologous recombination deficiency in prostate cancer revealed by ctDNA fragmentation and transcription factor accessibility

通过ctDNA片段化和转录因子可及性揭示前列腺癌中同源重组缺陷的功能性特征。

Vlachos, Georgios; Moser, Tina; Lazzeri, Isaac; Moser, Matthias J; Glawitch, Lisa; Bauernhofer, Emil Thomas; Eberhard, Anna; Beichler, Christine; Sadeghi, Hanieh; Blatterer, Jasmin; Kühberger, Stefan; Monsberger, Nina; Terbuch, Angelika; Kashofer, Karl; Geigl, Jochen B; Bauernhofer, Thomas; Heitzer, Ellen

The Expression of a Germline Fusion Gene Involving a Protein-Coding and a Long Non-Coding RNA Gene Results in Severe Brain Malformations.

包含蛋白质编码基因和长链非编码RNA基因的种系融合基因的表达会导致严重的脑畸形

Kaufmann Lukas, Beichler Christine, Blatterer Jasmin, Janisch Ingrid, Csapó Bence, Schreiner Elisabeth, Verheyen Sarah, Geigl Jochen B, Windpassinger Christian

An Unusual Retinal Presentation of a Novel COL11A1 Mutation: A Case Report

一种新型COL11A1基因突变的罕见视网膜表现:病例报告

Peschaut, Tobias; Michelitsch, Monja; Brandner, Martina; Kamper, Sandra; Ofner-Ziegenfuss, Lisa; Blatterer, Jasmin; Tichy, Heidelis Anna; Posch-Pertl, Laura

Extrahepatic biliary atresia and normal-range serum gamma-glutamyltranspeptidase activity: A case report

肝外胆道闭锁伴正常血清γ-谷氨酰转肽酶活性:病例报告

Kohlmaier, Benno; Tichy, Heidelis; Blatterer, Jasmin; Till, Holger; Schlagenhauf, Axel; Knisely, A S

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

由芳基硫酸酯酶K (ARSK) 缺乏引起的新型粘多糖贮积症亚型

Verheyen, Sarah; Blatterer, Jasmin; Speicher, Michael R; Bhavani, Gandham SriLakshmi; Boons, Geert-Jan; Ilse, Mai-Britt; Andrae, Dominik; Sproß, Jens; Vaz, Frédéric Maxime; Kircher, Susanne G; Posch-Pertl, Laura; Baumgartner, Daniela; Lübke, Torben; Shah, Hitesh; Al Kaissi, Ali; Girisha, Katta M; Plecko, Barbara

Biallelic truncating variants in ATP9A cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

ATP9A基因的双等位基因截断变异会导致一种新的神经发育障碍,包括出生后小头畸形和生长发育迟缓。

Vogt, Guido; Verheyen, Sarah; Schwartzmann, Sarina; Ehmke, Nadja; Potratz, Cornelia; Schwerin-Nagel, Anette; Plecko, Barbara; Holtgrewe, Manuel; Seelow, Dominik; Blatterer, Jasmin; Speicher, Michael R; Kornak, Uwe; Horn, Denise; Mundlos, Stefan; Fischer-Zirnsak, Björn; Boschann, Felix

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family

巴基斯坦一个近亲结婚的家庭中,L2HGDH基因中一种新的蛋白质截短突变导致L-2-羟基戊二酸尿症。

Muzammal, Muhammad; Ali, Muhammad Zeeshan; Brugger, Beatrice; Blatterer, Jasmin; Ahmad, Safeer; Taj, Sundas; Shah, Syed Khizar; Khan, Saadullah; Enzinger, Christian; Petek, Erwin; Wagner, Klaus; Khan, Muzammil Ahmad; Windpassinger, Christian

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

AFF3降解子区域的变异与智力障碍、肢体中段发育不良、马蹄肾和癫痫性脑病相关。

Norine Voisin ,Rhonda E Schnur ,Sofia Douzgou ,Susan M Hiatt ,Cecilie F Rustad ,Natasha J Brown ,Dawn L Earl ,Boris Keren ,Olga Levchenko ,Sinje Geuer ,Sarah Verheyen ,Diana Johnson ,Yuri A Zarate ,Miroslava Hančárová ,David J Amor ,E Martina Bebin ,Jasmin Blatterer ,Alfredo Brusco ,Gerarda Cappuccio ,Joel Charrow ,Nicolas Chatron ,Gregory M Cooper ,Thomas Courtin ,Elena Dadali ,Julien Delafontaine ,Ennio Del Giudice ,Martine Doco ,Ganka Douglas ,Astrid Eisenkölbl ,Tara Funari ,Giuliana Giannuzzi ,Ursula Gruber-Sedlmayr ,Nicolas Guex ,Delphine Heron ,Øystein L Holla ,Anna C E Hurst ,Jane Juusola ,David Kronn ,Alexander Lavrov ,Crystle Lee ,Séverine Lorrain ,Else Merckoll ,Anna Mikhaleva ,Jennifer Norman ,Sylvain Pradervand ,Darina Prchalová ,Lindsay Rhodes ,Victoria R Sanders ,Zdeněk Sedláček ,Heidelis A Seebacher ,Elizabeth A Sellars ,Fabio Sirchia ,Toshiki Takenouchi ,Akemi J Tanaka ,Heidi Taska-Tench ,Elin Tønne ,Kristian Tveten ,Giuseppina Vitiello ,Markéta Vlčková ,Tomoko Uehara ,Caroline Nava ,Binnaz Yalcin ,Kenjiro Kosaki ,Dian Donnai ,Stefan Mundlos ,Nicola Brunetti-Pierri ,Wendy K Chung ,Alexandre Reymond

Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study

不明原因宫内胎儿死亡中的心脏病变变异:一项回顾性试点研究

Muin, Dana A; Kollmann, Martina; Blatterer, Jasmin; Hoermann, Gregor; Husslein, Peter W; Lafer, Ingrid; Petek, Erwin; Schwarzbraun, Thomas

First Record of Trichobilharzia physellae (Talbot, 1936) in Europe, a Possible Causative Agent of Cercarial Dermatitis

1936 年,Talbot 首次在欧洲记录了毛毕吸虫,该虫可能是尾蚴性皮炎的病原体

Nikolaus Helmer, Hubert Blatterer, Christoph Hörweg, Susanne Reier, Helmut Sattmann, Julia Schindelar, Nikolaus U Szucsich, Elisabeth Haring