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

Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

挪威新生儿筛查扩展项目在分析后生物信息学工具和快速二级DNA分析的支持下取得良好效果

Tangeraas, Trine; Sæves, Ingjerd; Klingenberg, Claus; Jørgensen, Jens; Kristensen, Erle; Gunnarsdottir, Gunnþórunn; Hansen, Eirik Vangsøy; Strand, Janne; Lundman, Emma; Ferdinandusse, Sacha; Salvador, Cathrin Lytomt; Woldseth, Berit; Bliksrud, Yngve T; Sagredo, Carlos; Olsen, Øyvind E; Berge, Mona C; Trømborg, Anette Kjoshagen; Ziegler, Anders; Zhang, Jin Hui; Sørgjerd, Linda Karlsen; Ytre-Arne, Mari; Hogner, Silje; Løvoll, Siv M; Kløvstad Olavsen, Mette R; Navarrete, Dionne; Gaup, Hege J; Lilje, Rina; Zetterström, Rolf H; Stray-Pedersen, Asbjørg; Rootwelt, Terje; Rinaldo, Piero; Rowe, Alexander D; Pettersen, Rolf D

Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency

早期治疗的NAGS缺乏症患者即使出现严重高氨血症,婴儿期神经系统发育仍正常

Reigstad, Hallvard; Woldseth, Berit; Häberle, Johannes

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

由于 SUCLA2 和 SUCLG1 突变导致的琥珀酸辅酶 A 连接酶缺乏症:71 名患者的表型和基因型相关性

Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, Rene de Coo, Hernan Amartino, Marzia Bianchi, Daniela Buhas, Samir Mesli, Karin Naess, Alfred Peter Born, Berit Woldseth, Paolo Prontera, Mustafa Batbayli, Kirstine Ravn, Fróði Joensen, Duccio M Cordelli, Filippo Maria Santorelli, Mar Tulinius,

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

Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study

挪威奥斯陆儿童进行性脑病发病率:一项基于人群的研究

Stromme, Petter; Kanavin, Oivind Juris; Abdelnoor, Michael; Woldseth, Berit; Rootwelt, Terje; Diderichsen, Jorgen; Bjurulf, Bjorn; Sommer, Finn; Magnus, Per

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

2-甲基丁酰辅酶A脱氢酶缺乏症与自闭症和智力障碍相关:病例报告

Kanavin, Oivind J; Woldseth, Berit; Jellum, Egil; Tvedt, Bjorn; Andresen, Brage S; Stromme, Petter