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

Age-Associated Genetic Variations in Breast Cancer: Somatic Mutations and Co-Mutations

乳腺癌中与年龄相关的基因变异:体细胞突变和共突变

Ekinci, Busra; Orenay-Boyacioglu, Seda; Erdogdu, Ibrahim Halil; Boyacioglu, Olcay; Cirak-Balta, Merve; Kahraman-Cetin, Nesibe; Meteoglu, Ibrahim

Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy

CRELD1双等位基因变异会导致严重的肌肉无力和婴儿癫痫。

Manuela D'Alessandro,Daniel Bamborschke,Margret H Bülow,Özkan Özdemir,Hülya-Sevcan Daimagüler,Verena Brümmer,Nicole Kucharowski,Julia Sellin,Anna Brunn,Martina Deckert,Gilbert Wunderlich,Friederike Koerber,Jean-Louis Bessereau,Sebahattin Cirak

Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora Disease

神经丝轻链作为拉福拉病疾病进展的生物标志物

Muccioli, Lorenzo; Ganceviciute, Bazile; Becker, Felicitas; Minardi, Raffaella; Tappatà, Maria; Bachhuber, Franziska; Alkhatib, Mahmoud; Cirak, Sebahattin; Weishaupt, Jochen; Verma, Mayank; Tumani, Hayrettin; Wagner, Jan; Messahel, Souad; Nitschke, Felix; Minassian, Berge A; Bisulli, Francesca; Brenner, David

Potassium carbonate as an alternative solution for detecting Anoplocephalid eggs in horse faecal samples

碳酸钾作为检测马粪样本中无刺头虱卵的替代溶液

Girisgin, Oya; Gülegen, Ender; Girisgin, Ahmet Onur; Cirak, Veli Yilgor

Corneal endothelial and retinal microvascular changes in pseudoexfoliation syndrome: insights from specular microscopy and OCT angiography

假性剥脱综合征中角膜内皮和视网膜微血管的变化:来自角膜内皮显微镜和OCT血管造影的启示

Atalay, Kursat; Kocak, Ibrahim; Sayin, Nihat; Cirak, Busra

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial

新生儿脊髓性肌萎缩症筛查的临床有效性:一项非随机对照试验

Schwartz, Oliver; Vill, Katharina; Pfaffenlehner, Michelle; Behrens, Max; Weiß, Claudia; Johannsen, Jessika; Friese, Johannes; Hahn, Andreas; Ziegler, Andreas; Illsinger, Sabine; Smitka, Martin; von Moers, Arpad; Kölbel, Heike; Schreiber, Gudrun; Kaiser, Nadja; Wilichowski, Ekkehard; Flotats-Bastardas, Marina; Husain, Ralf A; Baumann, Matthias; Köhler, Cornelia; Trollmann, Regina; Schwerin-Nagel, Annette; Eisenkölbl, Astrid; Schimmel, Mareike; Fleger, Martin; Kauffmann, Birgit; Wiegand, Gert; Baumgartner, Manuela; Rauscher, Christian; Cirak, Sebahattin; Gläser, Dieter; Bernert, Günther; Hagenacker, Tim; Goldbach, Susanne; Probst-Schendzielorz, Kristina; Lochmüller, Hanns; Müller-Felber, Wolfgang; Schara-Schmidt, Ulrike; Walter, Maggie C; Kirschner, Janbernd; Pechmann, Astrid

Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study

一项基于人群的观察性研究:在DA-CH区域患有脊髓性肌萎缩症的儿童中,使用onasemnogene abeparvovec进行基因治疗的疗效和安全性

Weiß, Claudia; Becker, Lena-Luise; Friese, Johannes; Blaschek, Astrid; Hahn, Andreas; Illsinger, Sabine; Schwartz, Oliver; Bernert, Günther; Hagen, Maja von der; Husain, Ralf A; Goldhahn, Klaus; Kirschner, Janbernd; Pechmann, Astrid; Flotats-Bastardas, Marina; Schreiber, Gudrun; Schara, Ulrike; Plecko, Barbara; Trollmann, Regina; Horber, Veronka; Wilichowski, Ekkehard; Baumann, Matthias; Klein, Andrea; Eisenkölbl, Astrid; Köhler, Cornelia; Stettner, Georg M; Cirak, Sebahattin; Hasselmann, Oswald; Kaindl, Angela M; Garbade, Sven F; Johannsen, Jessika; Ziegler, Andreas

Readmission rates within the first 30 and 90 days after severe COPD exacerbations (RACE study)

严重慢性阻塞性肺疾病急性加重后 30 天和 90 天内的再入院率(RACE 研究)

Baydar Toprak, Oya; Polatli, Mehmet; Baha, Ayşe; Kokturk, Nurdan; Yapar, Dilek; Ozkan, Secil; Sen, Elif; Ciftci, Fatma; Ozturk, Burcu; Kodalak, Sumeyye; Ulubay, Gaye; Serifoglu, Irem; Varol, Yelda; Mertoglu, Aydan; Cirak, Ali Kadri; Turan, Onur; Dursunoglu, Nese; Savurmus, Nilufer; Gurgun, Alev; Elmas, Funda; Çoplu, Lutfi; Sertcelik, Umran; Yildiz, Reyhan; Ozmen, Ipek; Alpaydin, Aylin; Karacay, Ebru; Celik, Deniz; Mete, Burak

Newbornscreening SMA - From Pilot Project to Nationwide Screening in Germany

德国新生儿脊髓性肌萎缩症筛查——从试点项目到全国筛查

Müller-Felber, Wolfgang; Blaschek, Astrid; Schwartz, Oliver; Gläser, Dieter; Nennstiel, Uta; Brockow, Inken; Wirth, Brunhilde; Burggraf, Siegfried; Röschinger, Wulf; Becker, Marc; Durner, Jürgen; Eggermann, Katja; Kölbel, Heike; Müller, Christine; Hannibal, Iris; Olgemöller, Bernd; Schara, Ulrike; von Moers, Arpad; Trollmann, Regina; Johannssen, Jessika; Ziegler, Andreas; Cirak, Sebahattin; Hahn, Andreas; von der Hagen, Maja; Weiss, Claudia; Schreiber, Gudrun; Flotats-Bastardas, Marina; Hartmann, Hans; Illsinger, Sabine; Pechmann, Astrid; Horber, Veronka; Kirschner, Jan; Köhler, Cornelia; Winter, Benedikt; Friese, Johannes; Vill, Katharina

A defect in molybdenum cofactor binding causes an attenuated form of sulfite oxidase deficiency

钼辅因子结合缺陷导致亚硫酸盐氧化酶缺乏症的减弱形式

Alexander Tobias Kaczmarek, Daniel Bender, Titus Gehling, Joshua Benedict Kohl, Hülya-Sevcan Daimagüler, José Angel Santamaria-Araujo, Max Christoph Liebau, Anne Koy, Sebahattin Cirak, Guenter Schwarz