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

Syndromic Inborn Errors of Immunity in TREC-Newborn Screening: 5-year Experience from the German Screening Program

TREC新生儿筛查中的综合征性先天性免疫缺陷:德国筛查项目的5年经验

Graafen, Lea; Speckmann, Carsten; Bakhtiar, Shahrzad; Bernuth, Horst V; Lehmberg, Kai; Bader, Peter; Baumann, Ulrich; Beier, Rita; Borte, Stephan; Brockow, Inken; Davies, E Graham; Hartmann, Maximilian; Holzer, Ursula; Klemann, Christian; Kreins, Alexandra Y; Krüger, Renate; Kontny, Udo; Laws, Hans-Jürgen; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; Rothoeft, Tobias; Schneider, Dominik T; Willasch, Andre; Worth, Austen; Seidel, Markus G; Albert, Michael H; Ehl, Stephan; Hauck, Fabian; Hönig, Manfred; Schulz, Ansgar; Schuetz, Catharina; Ghosh, Sujal

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

ACTB 和 ACTG1 相关非肌肉肌动蛋白病中的分子基因型-表型相关性

Di Donato, Nataliya; Thom, Andrew; Rump, Andreas; Greve, Johannes N; Cadiñanos, Juan; Calabrò, Rocco Salvatore; Cathey, Sara; Chung, Brian; Cope, Heidi; Costales, Maria; Cuvertino, Sara; Dinkel, Philine; Erripi, Kalliopi; Fry, Andrew E; Garavelli, Livia; Hoffjan, Sabine; Janzarik, Wibke G; Kreimer, Insa; Mancini, Grazia; Marin-Reina, Purificacion; Meinhardt, Andrea; Niehaus, Indra; Pilz, Daniela; Ricca, Ivana; Simarro, Fernando Santos; Schrock, Evelin; Marquardt, Anja; Taft, Manuel H; Tezcan, Kamer; Thunström, Sofia; Verhagen, Judith; Verloes, Alain; Wollnik, Bernd; Krawitz, Peter; Hsieh, Tzung-Chien; Seifert, Michael; Heide, Michael; Lawrence, Catherine B; Roberts, Neil A; Manstein, Dietmar J; Woolf, Adrian S; Banka, Siddharth

Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actin.

DIAPH1 的遗传性缺陷揭示了由 α-肌动蛋白调控的 DNA 双链断裂修复途径

Woodward Beth L, Lahiri Sudipta, Chauhan Anoop S, Garcia Marcos Rios, Goodley Lucy E, Clarke Thomas L, Pal Mohinder, Agathanggelou Angelo, Jhujh Satpal S, Ganesh Anil N, Hollins Fay M, Deforie Valentina Galassi, Maroofian Reza, Efthymiou Stephanie, Meinhardt Andrea, Mathew Christopher G, Simpson Michael A, Mefford Heather C, Faqeih Eissa A, Rosenzweig Sergio D, Volpi Stefano, Di Matteo Gigliola, Cancrini Caterina, Scardamaglia Annarita, Shackley Fiona, Davies E Graham, Ibrahim Shahnaz, Arkwright Peter D, Zaki Maha S, Stankovic Tatjana, Taylor A Malcolm R, Mazur Antonina J, Di Donato Nataliya, Houlden Henry, Rothenberg Eli, Stewart Grant S

Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency

逆转录病毒基因疗法治疗腺苷脱氨酶缺乏症的长期和真实世界安全性和有效性

Migliavacca, Maddalena; Barzaghi, Federica; Fossati, Claudia; Rancoita, Paola M V; Gabaldo, Michela; Dionisio, Francesca; Giannelli, Stefania; Salerio, Federica Andrea; Ferrua, Francesca; Tucci, Francesca; Calbi, Valeria; Gallo, Vera; Recupero, Salvatore; Consiglieri, Giulia; Pajno, Roberta; Sambuco, Maria; Priolo, Alessio; Ferri, Chiara; Garella, Vittoria; Monti, Ilaria; Silvani, Paolo; Darin, Silvia; Casiraghi, Miriam; Corti, Ambra; Zancan, Stefano; Levi, Margherita; Cesana, Daniela; Carlucci, Filippo; Pituch-Noworolska, Anna; AbdElaziz, Dalia; Baumann, Ulrich; Finocchi, Andrea; Cancrini, Caterina; Ladogana, Saverio; Meinhardt, Andrea; Meyts, Isabelle; Montin, Davide; Notarangelo, Lucia Dora; Porta, Fulvio; Pasquet, Marlène; Speckmann, Carsten; Stepensky, Polina; Tommasini, Alberto; Rabusin, Marco; Karakas, Zeynep; Galicchio, Miguel; Leonardi, Lucia; Duse, Marzia; Guner, Sukru Nail; Di Serio, Clelia; Ciceri, Fabio; Bernardo, Maria Ester; Aiuti, Alessandro; Cicalese, Maria Pia

Future Directions in the Diagnosis and Treatment of APDS and IEI: a Survey of German IEI Centers

APDS和IEI诊断和治疗的未来方向:德国IEI中心调查

Vanselow, Sven; Hanitsch, Leif; Hauck, Fabian; Körholz, Julia; Maccari, Maria-Elena; Meinhardt, Andrea; Sogkas, Georgios; Schuetz, Catharina; Grimbacher, Bodo

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

德国新生儿重症联合免疫缺陷症筛查:儿科免疫学工作组 (API) 的初步分析

Speckmann, Carsten; Nennstiel, Uta; Hönig, Manfred; Albert, Michael H; Ghosh, Sujal; Schuetz, Catharina; Brockow, Inken; Hörster, Friederike; Niehues, Tim; Ehl, Stephan; Wahn, Volker; Borte, Stephan; Lehmberg, Kai; Baumann, Ulrich; Beier, Rita; Krüger, Renate; Bakhtiar, Shahrzad; Kuehl, Joern-Sven; Klemann, Christian; Kontny, Udo; Holzer, Ursula; Meinhardt, Andrea; Morbach, Henner; Naumann-Bartsch, Nora; Rothoeft, Tobias; Kreins, Alexandra Y; Davies, E Graham; Schneider, Dominik T; Bernuth, Horst V; Klingebiel, Thomas; Hoffmann, Georg F; Schulz, Ansgar; Hauck, Fabian

Amphiphilic Copolymers for Versatile, Facile, and In Situ Tunable Surface Biofunctionalization

用于多功能、简便和原位可调表面生物功能化的两亲性共聚物

Ruland, André; Schenker, Saskia; Schirmer, Lucas; Friedrichs, Jens; Meinhardt, Andrea; Schwartz, Véronique B; Kaiser, Nadine; Konradi, Rupert; MacDonald, William; Helmecke, Tina; Sikosana, Melissa K L N; Valtin, Juliane; Hahn, Dominik; Renner, Lars D; Werner, Carsten; Freudenberg, Uwe

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

脯氨酸酶缺乏症自然史的定量分析:17个家族的描述及已发表病例的系统性回顾

Rossignol, Francis; Duarte Moreno, Marvid S; Benoist, Jean-François; Boehm, Manfred; Bourrat, Emmanuelle; Cano, Aline; Chabrol, Brigitte; Cosson, Claudine; Díaz, José Luís Dapena; D'Harlingue, Arthur; Dimmock, David; Freeman, Alexandra F; García, María Tallón; Garganta, Cheryl; Goerge, Tobias; Halbach, Sara S; de Laffolie, Jan; Lam, Christina T; Martin, Ludovic; Martins, Esmeralda; Meinhardt, Andrea; Melki, Isabelle; Ombrello, Amanda K; Pérez, Noémie; Quelhas, Dulce; Scott, Anna; Slavotinek, Anne M; Soares, Ana Rita; Stein, Sarah L; Süßmuth, Kira; Thies, Jenny; Ferreira, Carlos R; Schiff, Manuel

Nogo-A targeted therapy promotes vascular repair and functional recovery following stroke

Nogo-A靶向疗法可促进卒中后的血管修复和功能恢复。

Rust, Ruslan; Grönnert, Lisa; Gantner, Christina; Enzler, Alinda; Mulders, Geertje; Weber, Rebecca Z; Siewert, Arthur; Limasale, Yanuar D P; Meinhardt, Andrea; Maurer, Michael A; Sartori, Andrea M; Hofer, Anna-Sophie; Werner, Carsten; Schwab, Martin E

Pediatric follicular lymphoma--a clinico-pathological study of a population-based series of patients treated within the Non-Hodgkin's Lymphoma--Berlin-Frankfurt-Munster (NHL-BFM) multicenter trials

儿童滤泡性淋巴瘤——一项基于人群的临床病理学研究,研究对象为在非霍奇金淋巴瘤——柏林-法兰克福-明斯特(NHL-BFM)多中心试验中接受治疗的患者。

Oschlies, Ilske; Salaverria, Itziar; Mahn, Friederike; Meinhardt, Andrea; Zimmermann, Martin; Woessmann, Wilhelm; Burkhardt, Birgit; Gesk, Stefan; Krams, Matthias; Reiter, Alfred; Siebert, Reiner; Klapper, Wolfram