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

Genetic landscape of pediatric acute liver failure of indeterminate origin

儿童不明原因急性肝衰竭的遗传图谱

Lenz, Dominic; Schlieben, Lea D; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Rüdiger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Burnytė, Birutė; Calvo, Pier L; Crushell, Ellen; Dalgiç, Buket; Das, Anibh M; Dezsőfi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaçlioğlu, Ceyda T; Knoppke, Birgit; Kohl, Martina; Kölbel, Heike; Kölker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloğlu, Zarife; Kuster, Alice; Laass, Martin W; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Müller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petković Ramadža, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnès; Santer, René; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B; Zakharova, Ekaterina; Hoffmann, Georg F; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger

New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

新的酰基肉碱比率作为长链3-羟酰辅酶A脱氢酶缺乏症的可靠指标

Baydakova, Galina V; Tsygankova, Polina G; Pechatnikova, Natalia L; Bazhanova, Olga A; Nazarenko, Yana D; Zakharova, Ekaterina Y

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

Leigh 综合征:俄罗斯的分子缺陷谱和临床特征

Denis Kistol, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis, Ekaterina Nikolaeva, Svetlana Mikhailova, Maria Sumina, Natalia Pechatnikova, Sergey Kurbatov, Fatima Bostanova, Ochir Migiaev, Ekaterina Zakharova

Proteomic Studies of Psoriasis

银屑病蛋白质组学研究

Sobolev, Vladimir V; Soboleva, Anna G; Denisova, Elena V; Pechatnikova, Eva A; Dvoryankova, Eugenia; Korsunskaya, Irina M; Mezentsev, Alexandre

Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants

通过发现新的错义突变、深内含子突变和结构突变,扩展丙酮酸羧化酶缺乏症的遗传谱

Tsygankova, Polina; Bychkov, Igor; Minzhenkova, Marina; Pechatnikova, Natalia; Bessonova, Lyudmila; Buyanova, Galina; Naumchik, Irina; Beskorovainiy, Nikita; Tabakov, Vyacheslav; Itkis, Yulia; Shilova, Nadezhda; Zakharova, Ekaterina

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

对134名患有自闭症谱系障碍和退行性疾病的儿童进行下一代测序

Yin, Jiani; Chun, Chun-An; Zavadenko, Nikolay N; Pechatnikova, Natalia L; Naumova, Oxana Yu; Doddapaneni, Harsha V; Hu, Jianhong; Muzny, Donna M; Schaaf, Christian P; Grigorenko, Elena L