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

A monoallelic UXS1 variant associated with short-limbed short stature

与四肢矮小症相关的单等位基因 UXS1 变异

Cecilie F Rustad, Paul Hoff Backe, Chunsheng Jin, Else Merckoll, Kristian Tveten, Marissa Lucy Maciej-Hulme, Niclas Karlsson, Trine Prescott, Elise Sandås Sand, Berit Woldseth, Katja Benedikte Prestø Elgstøen, Øystein L Holla

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

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

AFF3降解子区域的变异与智力障碍、肢体中段发育不良、马蹄肾和癫痫性脑病相关。

Norine Voisin ,Rhonda E Schnur ,Sofia Douzgou ,Susan M Hiatt ,Cecilie F Rustad ,Natasha J Brown ,Dawn L Earl ,Boris Keren ,Olga Levchenko ,Sinje Geuer ,Sarah Verheyen ,Diana Johnson ,Yuri A Zarate ,Miroslava Hančárová ,David J Amor ,E Martina Bebin ,Jasmin Blatterer ,Alfredo Brusco ,Gerarda Cappuccio ,Joel Charrow ,Nicolas Chatron ,Gregory M Cooper ,Thomas Courtin ,Elena Dadali ,Julien Delafontaine ,Ennio Del Giudice ,Martine Doco ,Ganka Douglas ,Astrid Eisenkölbl ,Tara Funari ,Giuliana Giannuzzi ,Ursula Gruber-Sedlmayr ,Nicolas Guex ,Delphine Heron ,Øystein L Holla ,Anna C E Hurst ,Jane Juusola ,David Kronn ,Alexander Lavrov ,Crystle Lee ,Séverine Lorrain ,Else Merckoll ,Anna Mikhaleva ,Jennifer Norman ,Sylvain Pradervand ,Darina Prchalová ,Lindsay Rhodes ,Victoria R Sanders ,Zdeněk Sedláček ,Heidelis A Seebacher ,Elizabeth A Sellars ,Fabio Sirchia ,Toshiki Takenouchi ,Akemi J Tanaka ,Heidi Taska-Tench ,Elin Tønne ,Kristian Tveten ,Giuseppina Vitiello ,Markéta Vlčková ,Tomoko Uehara ,Caroline Nava ,Binnaz Yalcin ,Kenjiro Kosaki ,Dian Donnai ,Stefan Mundlos ,Nicola Brunetti-Pierri ,Wendy K Chung ,Alexandre Reymond

Functional and Structural Adaptations of Skeletal Muscle in Long-Term Juvenile Dermatomyositis: A Controlled Cross-Sectional Study

长期青少年皮肌炎骨骼肌的功能和结构适应:一项对照横断面研究

Kristin Schjander Berntsen, Truls Raastad, Henriette Marstein, Eva Kirkhus, Else Merckoll, Kristoffer Toldnes Cumming, Berit Flatø, Ivar Sjaastad, Helga Sanner

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

一名19岁男性患者临床诊断为拉森综合征、斯蒂克勒综合征和洛伊斯-迪茨综合征:病例报告

Riise, N; Lindberg, B R; Kulseth, M A; Fredwall, S O; Lundby, R; Estensen, M-E; Drolsum, L; Merckoll, E; Krohg-Sørensen, K; Paus, B

Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study

抗合成酶综合征患者与匹配对照组肌肉MRI和肌肉功能的比较分析:一项横断面研究

Andersson, Helena; Kirkhus, Eva; Garen, Torhild; Walle-Hansen, Ragnhild; Merckoll, Else; Molberg, Øyvind

Radiographic classifications in Perthes disease

佩尔特斯病的放射学分级

Huhnstock, Stefan; Svenningsen, Svein; Merckoll, Else; Catterall, Anthony; Terjesen, Terje; Wiig, Ola

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations

中轴型脊椎干骺端发育不良是由 C21orf2 突变引起的

Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo K

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

一种新型的肢根软骨发育不良症(RCDP5)是由 PEX5 长同工酶的缺失引起的

Tuva Barøy, Janet Koster, Petter Strømme, Merel S Ebberink, Doriana Misceo, Sacha Ferdinandusse, Asbjørn Holmgren, Timothy Hughes, Else Merckoll, Jostein Westvik, Berit Woldseth, John Walter, Nick Wood, Bjørn Tvedt, Kristine Stadskleiv, Ronald J A Wanders, Hans R Waterham, Eirik Frengen

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

PGM3基因突变会导致先天性糖基化障碍,伴有严重的免疫缺陷和骨骼发育不良。

Stray-Pedersen, Asbjørg; Backe, Paul H; Sorte, Hanne S; Mørkrid, Lars; Chokshi, Niti Y; Erichsen, Hans Christian; Gambin, Tomasz; Elgstøen, Katja B P; Bjørås, Magnar; Wlodarski, Marcin W; Krüger, Marcus; Jhangiani, Shalini N; Muzny, Donna M; Patel, Ankita; Raymond, Kimiyo M; Sasa, Ghadir S; Krance, Robert A; Martinez, Caridad A; Abraham, Shirley M; Speckmann, Carsten; Ehl, Stephan; Hall, Patricia; Forbes, Lisa R; Merckoll, Else; Westvik, Jostein; Nishimura, Gen; Rustad, Cecilie F; Abrahamsen, Tore G; Rønnestad, Arild; Osnes, Liv T; Egeland, Torstein; Rødningen, Olaug K; Beck, Christine R; Boerwinkle, Eric A; Gibbs, Richard A; Lupski, James R; Orange, Jordan S; Lausch, Ekkehart; Hanson, I Celine