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

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders

对32例患有遗传性骨骼疾病的胎儿进行基因组测序

Lindelöf, Hillevi; Hammarsjö, Anna; Voss, Ulrika; Gaetana Piticchio, Serena; Conner, Peter; Papadogiannakis, Nikos; Batkovskyte, Dominyka; Orellana, Laura; Kvarnung, Malin; Malmgren, Helena; Lagerstedt Robinson, Kristina; Nordgren, Ann; Lindstrand, Anna; Nishimura, Gen; Grigelioniene, Giedre

The Efficacy of Remineralizing Materials on Artificial Enamel Lesions: An In Vitro Study

再矿化材料对人工牙釉质损伤的疗效:一项体外研究

Klimaitė, Gustė; Vasiliauskas, Arūnas; Grinkevičius, Pranas; Grinkevičienė, Dominyka; Šapalas, Deivydas

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann

The level of protein in the maternal murine diet modulates the facial appearance of the offspring via mTORC1 signaling

母鼠饮食中的蛋白质水平通过 mTORC1 信号调节后代的面部外观

Meng Xie, Markéta Kaiser, Yaakov Gershtein, Daniela Schnyder, Ruslan Deviatiiarov, Guzel Gazizova, Elena Shagimardanova, Tomáš Zikmund, Greet Kerckhofs, Evgeny Ivashkin, Dominyka Batkovskyte, Phillip T Newton, Olov Andersson, Kaj Fried, Oleg Gusev, Hugo Zeberg, Jozef Kaiser, Igor Adameyko, Andrei S

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect

成骨不全症 V 型中的 IFITM5 突变与 ERK/SOX9 依赖性骨祖细胞分化缺陷有关

Ronit Marom, I-Wen Song, Emily C Busse, Megan E Washington, Ava S Berrier, Vittoria C Rossi, Laura Ortinau, Youngjae Jeong, Ming-Ming Jiang, Brian C Dawson, Mary Adeyeye, Carolina Leynes, Caressa D Lietman, Bridget M Stroup, Dominyka Batkovskyte, Mahim Jain, Yuqing Chen, Racel Cela, Alexis Castellon

Antiviral Effect of Melatonin on Caco-2 Cell Organoid Culture: Trick or Treat?

褪黑素对 Caco-2 细胞类器官培养的抗病毒作用:是“不给糖就捣蛋”还是“给糖就捣蛋”?

Šeškutė, Milda; Žukaitė, Dominyka; Laucaitytė, Goda; Inčiūraitė, Rūta; Malinauskas, Mantas; Jankauskaitė, Lina

Case report: Uterine leiomyoma with fumarate hydratase deficiency

病例报告:子宫肌瘤合并富马酸水合酶缺乏症

Bužinskienė, Diana; Grinciūtė, Dominyka; Šilkūnas, Mindaugas; Šidlovska, Evelina

The Association of Epileptic Seizures after Acute Ischemic Stroke with Cerebral Cortical Involvement and Electroencephalographic Changes

急性缺血性卒中后癫痫发作与大脑皮层受累和脑电图改变的关联

Šmigelskytė, Agnė; Rimkuvienė, Gabija; Žukaitė, Dominyka; Repečkaitė, Gerta; Jurkevičienė, Giedrė

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

Al-Gazali 骨骼发育不良是 ADAMTSL2 相关疾病的致命原因

Dominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, Pelin Ozlem Simsek-Kiper, Sarah M Nikkel, Hirofumi Ohashi, Roger E Stevenson, Thuong Ha, Denise P Cavalcanti, Hiroyuki Miyahara, Steven A Skinner, Miguel A Aguirre, Zühal Akçören, Gulen Eda Utine, Tillie Chiu, Kenji Shimizu, Anna Hammarsjö, Koray B

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13

RPL13相关脊椎骨骺干骺端发育不良的临床、遗传和结构描述表明eL13具有核糖体外功能

Jacob, Prince; Lindelöf, Hillevi; Rustad, Cecilie F; Sutton, Vernon Reid; Moosa, Shahida; Udupa, Prajna; Hammarsjö, Anna; Bhavani, Gandham SriLakshmi; Batkovskyte, Dominyka; Tveten, Kristian; Dalal, Ashwin; Horemuzova, Eva; Nordgren, Ann; Tham, Emma; Shah, Hitesh; Merckoll, Else; Orellana, Laura; Nishimura, Gen; Girisha, Katta M; Grigelioniene, Giedre