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

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

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