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

Use of sequence barcodes for tracking horizontal gene transfer of antimicrobial resistance genes in a microbial community

利用序列条形码追踪微生物群落中抗菌素耐药基因的水平基因转移

Partanen, Veera; Dekić Rozman, Svjetlana; Karkman, Antti; Muurinen, Johanna; Hiltunen, Teppo; Virta, Marko

Defective GNAS imprinting due to splice site variants in pseudohypoparathyroidism type 1B

假性甲状旁腺功能减退症 1B 型中由剪接位点变异引起的 GNAS 印记缺陷

Iwasaki, Yorihiro; Reyes, Monica; Molin, Arnaud; Muurinen, Mari; Kottler, Marie-Laure; Bastepe, Murat; Jüppner, Harald

Vision impairment is a risk factor for malnutrition in older long-term care residents

视力障碍是老年长期护理机构居民营养不良的一个风险因素。

Jyväkorpi, Satu K; Soini, H; Pitkala, K H; Saarela, R K T; Muurinen, S

A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family

芬兰一个家族中发现与X连锁低磷血症相关的深内含子PHEX变异

Koponen, Laura; Pekkinen, Minna; Legebeke, Jelmer; Muurinen, Mari; Rusanen, Salla; Hussain, Shabir; Wang, Fan; Nevalainen, Pasi I; Mäkitie, Outi

Decades of Change in Vascular Plant Composition in High-Latitude Ecosystems: Shifting Prevalence of Pollination Strategies

高纬度生态系统中维管植物组成数十年的变化:授粉策略的转变

Kiilunen, Petteri; Maliniemi, Tuija; Alahuhta, Janne; Grytnes, John-Arvid; Virtanen, Risto; Bråthen, Kari Anne; Happonen, Konsta; Kapfer, Jutta; Muurinen, Lauralotta; Skalska-Tuomi, Maria W; Ala-Hulkko, Terhi

Germline mutations in a G protein identify signaling cross-talk in T cells

G蛋白的种系突变可揭示T细胞中的信号传导串扰

Ham, Hyoungjun; Jing, Huie; Lamborn, Ian T; Kober, Megan M; Koval, Alexey; Berchiche, Yamina A; Anderson, D Eric; Druey, Kirk M; Mandl, Judith N; Isidor, Bertrand; Ferreira, Carlos R; Freeman, Alexandra F; Ganesan, Sundar; Karsak, Meliha; Mustillo, Peter J; Teo, Juliana; Zolkipli-Cunningham, Zarazuela; Chatron, Nicolas; Lecoquierre, François; Oler, Andrew J; Schmid, Jana Pachlopnik; Kuhns, Douglas B; Xu, Xuehua; Hauck, Fabian; Al-Herz, Waleed; Wagner, Matias; Terhal, Paulien A; Muurinen, Mari; Barlogis, Vincent; Cruz, Phillip; Danielson, Jeffrey; Stewart, Helen; Loid, Petra; Rading, Sebastian; Keren, Boris; Pfundt, Rolph; Zarember, Kol A; Vill, Katharina; Potocki, Lorraine; Olivier, Kenneth N; Lesca, Gaetan; Faivre, Laurence; Wong, Melanie; Puel, Anne; Chou, Janet; Tusseau, Maud; Moutsopoulos, Niki M; Matthews, Helen F; Simons, Cas; Taft, Ryan J; Soldatos, Ariane; Masle-Farquhar, Etienne; Pittaluga, Stefania; Brink, Robert; Fink, Danielle L; Kong, Heidi H; Kabat, Juraj; Kim, Woo Sung; Bierhals, Tatjana; Meguro, Kazuyuki; Hsu, Amy P; Gu, Jingwen; Stoddard, Jennifer; Banos-Pinero, Benito; Slack, Maria; Trivellin, Giampaolo; Mazel, Benoît; Soomann, Maarja; Li, Samuel; Watts, Val J; Stratakis, Constantine A; Rodriguez-Quevedo, Maria F; Bruel, Ange-Line; Lipsanen-Nyman, Marita; Saultier, Paul; Jain, Rashmi; Lehalle, Daphne; Torres, Daniel; Sullivan, Kathleen E; Barbarot, Sébastien; Neu, Axel; Duffourd, Yannis; Similuk, Morgan; McWalter, Kirsty; Blanc, Pierre; Bézieau, Stéphane; Jin, Tian; Geha, Raif S; Casanova, Jean-Laurent; Makitie, Outi M; Kubisch, Christian; Edery, Patrick; Christodoulou, John; Germain, Ronald N; Goodnow, Christopher C; Sakmar, Thomas P; Billadeau, Daniel D; Küry, Sébastien; Katanaev, Vladimir L; Zhang, Yu; Lenardo, Michael J; Su, Helen C

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome

对一个患有多中心性骨溶解、结节病和关节病(MONA)综合征的巴基斯坦家族进行临床和分子特征分析

Ahmad, Safeer; Muurinen, Mari; Loid, Petra; Ali, Muhammad Zeeshan; Muzammal, Muhammad; Fatima, Sana; Khan, Jabbar; Khan, Muzammil Ahmad; Mäkitie, Outi

Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly

在两个患有轴后多指畸形的家族中鉴定出 GLI1 和 KIAA0825 变异

Ahmad, Safeer; Ali, Muhammad Zeeshan; Muzammal, Muhammad; Khan, Amjad Ullah; Ikram, Muhammad; Muurinen, Mari; Hussain, Shabir; Loid, Petra; Khan, Muzammil Ahmad; Mäkitie, Outi

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

双等位基因 KIF24 变异可导致一系列骨骼疾病,从致命的骨骼纤毛病到严重的肢端发育不良

Madeline Louise Reilly, Noor Ul Ain, Mari Muurinen, Alice Tata, Céline Huber, Marleen Simon, Tayyaba Ishaq, Nick Shaw, Salla Rusanen, Minna Pekkinen, Wolfgang Högler, Maarten F C M Knapen, Myrthe van den Born, Sophie Saunier, Sadaf Naz, Valérie Cormier-Daire, Alexandre Benmerah, Outi Makitie

Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass

已知基因的嵌合缺失可解释骨量过高和过低的骨骼发育不良

Mari Muurinen, Fulya Taylan, Symeon Tournis, Jesper Eisfeldt, Alexia Balanika, Heleni Vastardis, Sirpa Ala-Mello, Outi Mäkitie, Alice Costantini