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

Further delineation of the SCAF4-associated neurodevelopmental disorder

进一步阐明SCAF4相关神经发育障碍

Schmid, Cosima M; Gregor, Anne; Ruiz, Anna; Manso Bazús, Carmen; Herman, Isabella; Ammouri, Farah; Kotzaeridou, Urania; McNiven, Vanda; Dupuis, Lucie; Steindl, Katharina; Begemann, Anaïs; Rauch, Anita; Suter, Aude-Annick; Isidor, Bertrand; Mercier, Sandra; Nizon, Mathilde; Cogné, Benjamin; Deb, Wallid; Besnard, Thomas; Haack, Tobias B; Falb, Ruth J; Müller, Amelie J; Linden, Tobias; Haldeman-Englert, Chad R; Ockeloen, Charlotte W; Mattioli, Francesca; Reymond, Alexandre; Ibrahim, Nazia; Naz, Shagufta; Lacaze, Elodie; Bassetti, Jennifer A; Hoefele, Julia; Brunet, Theresa; Riedhammer, Korbinian M; Elloumi, Houda Z; Person, Richard; Zou, Fanggeng; Kahle, Juliette J; Cremer, Kirsten; Schmidt, Axel; Delrue, Marie-Ange; Almeida, Pedro M; Ramos, Fabiana; Srivastava, Siddharth; Quinlan, Aisling; Robertson, Stephen; Manka, Eva; Kuechler, Alma; Spranger, Stephanie; Nowaczyk, Malgorzata J M; Elshafie, Reem M; Alsharhan, Hind; Hillman, Paul R; Dunnington, Leslie A; Braakman, Hilde M H; McKee, Shane; Moresco, Angelica; Ignat, Andrea-Diana; Newbury-Ecob, Ruth; Banneau, Guillaume; Patat, Olivier; Kuerbitz, Jeffrey; Rzucidlo, Susan; Sell, Susan S; Gordon, Patricia; Schuhmann, Sarah; Reis, André; Halleb, Yosra; Stoeva, Radka; Keren, Boris; Al Masseri, Zainab; Tümer, Zeynep; Hammer-Hansen, Sophia; Krüger Sølyst, Sofus; Steigerwald, Connolly G; Abreu, Nicolas J; Faust, Helene; Müller-Nedebock, Amica; Tran Mau-Them, Frédéric; Sticht, Heinrich; Zweier, Christiane

Parafenestella varangrensis sp. nov., a phomenin producing fungus from the Arctic

北极产菲莫宁真菌 Parafenestella varangrensis sp. nov.

Maharjan, Sailesh; Lesjø, Julie Marie; Isaksson, Johan; Hansen, Kine Østnes; Andersen, Jeanette Hammer; Hansen, Espen Holst; Rämä, Teppo

Marine-derived Acremonium strain prioritization using untargeted metabolomics approach for the identification of cytotoxic cyclic depsipeptides

利用非靶向代谢组学方法对海洋来源的 Acremonium 菌株进行优先级排序,以鉴定细胞毒性环状缩酚酸肽

Maharjan, Sailesh; Isaksson, Johan; Rämä, Teppo; Hansen, Kine Østnes; Andersen, Jeanette Hammer; Hansen, Espen Holst

Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort

儿童癌症队列中机会性基因组筛查的可操作性和家族接受度

Hammer-Hansen, Sophia; Stoltze, Ulrik; Bartels, Emil; Hansen, Thomas van Overeem; Byrjalsen, Anna; Tybjærg-Hansen, Anne; Juul, Klaus; Schmiegelow, Kjeld; Tfelt, Jacob; Bundgaard, Henning; Wadt, Karin; Diness, Birgitte Rode

Case report: A novel variant in SLC25A46 causing sensorimotor polyneuropathy and optic atrophy

病例报告:SLC25A46基因新变异导致感觉运动性多发性神经病和视神经萎缩

Kodal, Louise Sloth; Hammer-Hansen, Sophia; Holm-Yildiz, Sonja; Grønskov, Karen; Karstensen, Helena Gásdal; Dysgaard, Tina