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

Progressive symmetrical erythrokeratoderma associated with biallelic PNPLA1 variants

与双等位基因PNPLA1变异相关的进行性对称性红斑角化病

Jiang, Xingyuan; Echeandia-Francis, Caroline; Mani, Mitra V; Hyden, Martin; Lange-Asschenfeldt, Bernhard; Hügel, Rainer; Hausser, Ingrid; Süßmuth, Kira; Oji, Vinzenz; Kopp, Julia; Liu, William; Fischer, Judith; Choate, Keith A

Efficacy of azacitidine and trametinib against leptomeningeal melanosis associated with congenital melanocytic nevus syndrome

阿扎胞苷和曲美替尼治疗先天性黑素细胞痣综合征相关软脑膜黑变病的疗效

Raljević, Lina; Komlosi, Katalin; Feige, Ursula; Eckenweiler, Matthias; Lassmann, Silke; Jrad, Haroun Bel Hadj; Werner, Martin; Fischer, Judith; Has, Cristina; Feuchtinger, Tobias; Uhl, Markus; Niemeyer, Charlotte M; Hettmer, Simone

Defining Histological Patterns in Inherited Ichthyoses: Toward a Diagnostic Algorithm Based on 66 Confirmed Cases

确定遗传性鱼鳞病的组织学模式:基于66例确诊病例的诊断算法

Süßmuth, Kira; Oji, Vinzenz; Bodes, Jacqueline; Jochum, Isabelle; Muhs, Florian; Komlosi, Katalin; Hausser, Ingrid; Schmuth, Matthias; Traupe, Heiko; Fischer, Judith; Metze, Dieter

Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort

表皮松解性鱼鳞病:德国大型队列研究中的临床表现和疾病负担

Frommherz, Leonie; Giehl, Kathrin; Hofmann, Josephine; Huebner, Stefanie; Kiekbusch, Kirstin; Sabkova, Teodora; Süßmuth, Kira; Alter, Svenja; Tantcheva-Poór, Iliana; Ott, Hagen; Fischer, Judith; Has, Cristina

Case Report: Successful treatment of a novel variant of CARD14-mutated juvenile Pityriasis rubra pilaris with ixekizumab

病例报告:使用ixekizumab成功治疗一种新型CARD14突变型幼年型毛发红糠疹

Millak, Laura; Hahn, Matthias; Fischer, Judith; Volc, Sebastian

Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.

意大利北部 2 个患有 Dowling-Degos 病 4 型的家庭的遗传和表型特征

Tomasini Dario, Tomasini Carlo F, Michelerio Andrea, Arbustini Eloisa, Sirchia Fabio, Hotz Alrun, Fischer Judith, Rademacher Svenja

Validating a minipig model of reversible cerebral demyelination using human diagnostic modalities and electron microscopy

使用人类诊断方式和电子显微镜验证可逆性脑脱髓鞘小型猪模型

Mihai Ancău, Goutam Kumar Tanti, Vicki Marie Butenschoen, Jens Gempt, Igor Yakushev, Stephan Nekolla, Mark Mühlau, Christian Scheunemann, Sebastian Heininger, Benjamin Löwe, Erik Löwe, Silke Baer, Johannes Fischer, Judith Reiser, Sai S Ayachit, Friederike Liesche-Starnecker, Jürgen Schlegel, Kaspar

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein-1 mutation: A case report

由新型桥粒芯蛋白-1突变引起的遗传性表皮松解性掌跖角化病:病例报告

Koschitzki, Kevin; Kurz, Bernadett; Schreml, Julia; Fischer, Judith; Hotz, Alrun; Hammers, Christoph M; Berneburg, Mark; Niebel, Dennis; Schreml, Stephan

Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

ABCA12基因突变谱及64例常染色体隐性遗传性先天性鱼鳞病患者的基因型-表型相关性研究

Hotz, Alrun; Kopp, Julia; Bourrat, Emmanuelle; Oji, Vinzenz; Süßmuth, Kira; Komlosi, Katalin; Bouadjar, Bakar; Tantcheva-Poór, Iliana; Hellström Pigg, Maritta; Betz, Regina C; Giehl, Kathrin; Schedel, Fiona; Weibel, Lisa; Schulz, Solveig; Stölzl, Dora V; Tadini, Gianluca; Demiral, Emine; Berggard, Karin; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith

Syndromic ichthyoses

综合征型鱼鳞病

Fischer, Judith; Hotz, Alrun; Komlosi, Katalin