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

Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism

更正:迷失在滥交之中?HSD10 在心磷脂代谢中的进化和生化功能评估

Wohlfarter, Yvonne; Eidelpes, Reiner; Yu, Ryan D; Sailer, Sabrina; Koch, Jakob; Karall, Daniela; Scholl-Bürgi, Sabine; Amberger, Albert; Hillen, Hauke S; Zschocke, Johannes; Keller, Markus A

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations

线粒体 RNase P 亚基 PRORP 的双等位基因变异会导致线粒体 tRNA 加工缺陷和多效性多系统表现。

Hochberg, Irit; Demain, Leigh A M; Richer, Julie; Thompson, Kyle; Urquhart, Jill E; Rea, Alessandro; Pagarkar, Waheeda; Rodríguez-Palmero, Agustí; Schlüter, Agatha; Verdura, Edgard; Pujol, Aurora; Quijada-Fraile, Pilar; Amberger, Albert; Deutschmann, Andrea J; Demetz, Sandra; Gillespie, Meredith; Belyantseva, Inna A; McMillan, Hugh J; Barzik, Melanie; Beaman, Glenda M; Motha, Reeya; Ng, Kah Ying; O'Sullivan, James; Williams, Simon G; Bhaskar, Sanjeev S; Lawrence, Isabella R; Jenkinson, Emma M; Zambonin, Jessica L; Blumenfeld, Zeev; Yalonetsky, Sergey; Oerum, Stephanie; Rossmanith, Walter; Yue, Wyatt W; Zschocke, Johannes; Munro, Kevin J; Battersby, Brendan J; Friedman, Thomas B; Taylor, Robert W; O'Keefe, Raymond T; Newman, William G

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides

AG排除区再探:从91个位于典型AG二核苷酸之外的NF1内含子3'剪接位点突变中汲取的经验教训

Wimmer, Katharina; Schamschula, Esther; Wernstedt, Annekatrin; Traunfellner, Pia; Amberger, Albert; Zschocke, Johannes; Kroisel, Peter; Chen, Yunjia; Callens, Tom; Messiaen, Ludwine

Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes

两种不同的C1S错义突变与牙周型埃勒斯-当洛斯综合征相关,导致相同的分子结果。

Bally, Isabelle; Dalonneau, Fabien; Chouquet, Anne; Gröbner, Rebekka; Amberger, Albert; Kapferer-Seebacher, Ines; Stoiber, Heribert; Zschocke, Johannes; Thielens, Nicole M; Rossi, Véronique; Gaboriaud, Christine

High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing

蒂罗尔人群中BRCA1基因c.4183C>T终止突变的高发率:对基因检测的启示

Pölsler, Laura; Fiegl, Heidi; Wimmer, Katharina; Oberaigner, Willi; Amberger, Albert; Traunfellner, Pia; Morscher, Raphael J; Weber, Ingrid; Fauth, Christine; Wernstedt, Annekatrin; Sperner-Unterweger, Barbara; Oberguggenberger, Anne; Hubalek, Michael; Marth, Christian; Zschocke, Johannes

Dkk-3 expression in the tumor endothelium: a novel prognostic marker of pancreatic adenocarcinomas

肿瘤内皮细胞中Dkk-3的表达:胰腺腺癌的一种新型预后标志物

Fong, Dominic; Hermann, Martin; Untergasser, Gerold; Pirkebner, Daniela; Draxl, Anna; Heitz, Martin; Moser, Patrizia; Margreiter, Raimund; Hengster, Paul; Amberger, Albert

Dickkopf-3 as a new potential marker for neoangiogenesis in colorectal cancer: expression in cancer tissue and adjacent non-cancerous tissue.

Dickkopf-3 作为结直肠癌新生血管生成的新潜在标志物:在癌组织和邻近非癌组织中表达

Zitt Matthias, Untergasser Gerold, Amberger Albert, Moser Patrizia, Stadlmann Sylvia, Zitt Marion, Müller Hannes M, Mühlmann Gilbert, Perathoner Alexander, Margreiter Raimund, Gunsilius Eberhard, Ofner Dietmar