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J

Judith Fischer

university of freiburg

42H指数
211论文数
7.4K被引数
收录论文 133
发表时间
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Potential of 3D Skin Models and N/TERT-2G Cell Line in Genetic Research on Autosomal Recessive Nonsyndromic Epidermal Differentiation Disorders3D皮肤模型和N/TERT-2G细胞系在常染色体隐性非综合征性表皮分化障碍遗传研究中的应用潜力
errExperimental Dermatology
IF3.1
err2026-06-15
err0
errOAAI
errHao-Hsiang Hsu-Rehder; Cristina Glocker; Christine Aldrian; Ezgi Dikici; Gesa Sophie Wilde; Mariana Stavila; Nathalie Jonca; Branislav Kollár; Steffen Ulrich Eisenhardt; Judith Fischer
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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CARD14突变型青少年毛周糠疹的一种新型变异体
errFrontiers in Medicine
IF3
err2025-07-22
err0
errOAAI
errLaura Millak; Matthias Hahn; Judith Fischer; Sebastian Volc
err分享
err收藏
Immunoprofiling to guide treatment decision in SAM syndrome免疫表型分析以指导SAM综合征的治疗决策
errJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
err2025-02-12
err0
PREAI
errOlivia Bochnig; Thomas Giese; Judith Fischer; Katalin Komlosi; Silvia Mihalceanu; Hagen Ott; Knut Schäkel
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A striking hand phenotype and guselkumab efficacy in NIPAL4-linked autosomal recessive congenital ichthyosis
errCLINICAL AND EXPERIMENTAL DERMATOLOGY
IF2.8
err2025-02-06
err0
PREAI
errKlapproth, Henning; Rauterberg, Jonas; Koll, Philipp; Soellner, Lukas; Neumayer, Daniela; Fischer, Judith; Tantcheva-Poor, Iliana
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Pseudoainhum and universal alopecia
errJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
IF3.8
err2024-09-11
err0
PREAI
errSchneider, Lisa C.; Hotz, Alrun; Gugelmeier, Moritz; Fischer, Judith; Peitsch, Wiebke K.
err分享
err收藏
Pseudoainhum and universal alopecia
errJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
IF3.8
err2024-06-23
err0
PREAI
errSchneider, Lisa C.; Hotz, Alrun; Gugelmeier, Moritz; Fischer, Judith; Peitsch, Wiebke K.
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Confetti cure: reversing the genetic kaleidoscope of ichthyosis
errBRITISH JOURNAL OF DERMATOLOGY
IF9.6
err2024-06-11
err1
PREAI
errFischer, Judith
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Epidermolytic ichthyosis: Clinical spectrum and burden of disease in a large German cohort
errJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
err2024-05-13
err1
errOAAI
errFrommherz, Leonie; Giehl, Kathrin; Hofmann, Josephine; Huebner, Stefanie; Kiekbusch, Kirstin; Sabkova, Teodora; Suessmuth, Kira; Alter, Svenja; Tantcheva-Poor, Iliana; Ott, Hagen; Fischer, Judith; Has, Cristina
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Personal, financial and time burden in inherited ichthyoses: A survey of 144 patients in a university-based setting
errJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
err2024-03-25
err1
PREAI
errKlein, C.; Oji, V.; Sommer, R.; Augustin, M.; Staender, S.; Salzmann, S.; Kiekbusch, K.; Bodes, J.; Danzer, M. F.; Traupe, H.; Fischer, J.; Steinke, S.; Suessmuth, K.
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Persistent hyperkeratotic plaques
errJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
IF3.8
err2024-03-07
err0
PREAI
errSchroeder, Julie Claude; Alter, Svenja; Fischer, Judith; Foelster-Holst, Regina
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French national protocol for the management of congenital ichthyosis
errANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE
IF2.8
err2024-03-01
err2
PREAI
errSeverino-Freire, M.; Tournier, C. Granier; Chiaverini, C.; Audouze, A.; Morice-Picard, F.; Texier, H.; Dreyfus, I.; Bing-Lecointe, A. -C.; Mallet, S.; Bodemer, C.; Fischer, J.; Jonca, N.; Mazereeuw-Hautier, J.
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Persistent hyperkeratotic plaques
errJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
IF3.8
err2024-02-29
err0
PREAI
errSchroeder, Julie Claude; Alter, Svenja; Fischer, Judith; Foelster-Holst, Regina
err分享
err收藏
Amino Acid Substitution in the Cysteine-Rich Region of the Integrin f34 Subunit Causes Late- Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement
errJOURNAL OF INVESTIGATIVE DERMATOLOGY
IF5.7
err2023-11-01
err0
errOAAI
errWang, Yao; Hotz, Alrun; Esser, Philipp R.; Fischer, Judith; Has, Cristina
err分享
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Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene
errCLINICAL AND EXPERIMENTAL DERMATOLOGY
IF2.8
err2023-07-18
err0
PREAI
errOlbrich, Henning; Hotz, Alrun; Fischer, Judith; Shimanovich, Iakov
err分享
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A retrospective study on the liver toxicity of oral retinoids in Chanarin-Dorfman syndromeChanarin-Dorfman综合征口服维甲酸肝毒性的回顾性研究
errJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
err2023-06-20
err1
PREAI
errValette, C.; Jonca, N.; Fischer, J.; Pernin-Grandjean, J.; Granier Tournier, C.; Diociaiuti, A.; Neri, I.; Dreyfus, I.; Furman, M.; Giehl, K.; Wollenberg, A.; Mallet, S.; Martin, L.; Martin-Santiago, A.; Onnis, G.; Broue, P.; Leclerc-Mercier, S.; Schmuth, M.; Sprecher, E.; Gruber, R.; Suessmuth, K.; Bourrat, E.; Komlosi, K.; Hill, S.; O'Toole, E. A.; Schischmanoff, O.; Caux, F.; Mazereeuw-Hautier, J.
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Rare form of epidermolysis bullosa simplex with homozygous mutation in the EXPH5 gene
errJOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT
IF3.8
err2023-04-26
err1
errOAAI
errOlbrich, Henning; Fischer, Judith; Shimanovich, Iakov
err分享
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Germline intergenic duplications at Xq26.1 underlie Bazex-Dupre-Christol basal cell carcinoma susceptibility syndrome
errBRITISH JOURNAL OF DERMATOLOGY
IF9.6
err2022-12-01
err5
errOAAI
errLiu, Yanshan; Banka, Siddharth; Huang, Yingzhi; Hardman-Smart, Jonathan; Pye, Derek; Torrelo, Antonio; Beaman, Glenda M.; Kazanietz, Marcelo G.; Baker, Martin J.; Ferrazzano, Carlo; Shi, Chenfu; Orozco, Gisela; Eyre, Stephen; van Geel, Michel; Bygum, Anette; Fischer, Judith; Miedzybrodzka, Zosia; Abuzahra, Faris; Rubben, Albert; Cuvertino, Sara; Ellingford, Jamie M.; Smith, Miriam J.; Evans, D. Gareth; Weppner-Parren, Lizelotte J. M. T.; van Steensel, Maurice A. M.; Chaudhary, Iskander H.; Mangham, D. Chas; Lear, John T.; Paus, Ralf; Frank, Jorge; Newman, William G.; Zhang, Xue
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Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2
errJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY
IF8
err2022-11-17
err0
errOAAI
errFrommherz, Leonie; Komlosi, Katalin; Hewel, Charlotte; Kopp, Julia; Dewenter, Malin; Zimmer, Andreas; Bartsch, Oliver; Linke, Matthias; Technau-Hafsi, Kristin; Gerber, Susanne; Fischer, Judith; Has, Cristina
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Adding up the desmosomal genes causing syndromes with hair and skin involvement: identification of TUFT1 by state-of-the-art whole-genome sequencing
errBRITISH JOURNAL OF DERMATOLOGY
IF9.6
err2022-11-10
err0
PREAI
errFischer, Judith; Alter, Svenja
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A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings
errBRITISH JOURNAL OF DERMATOLOGY
IF9.6
err2022-11-10
err5
PREAI
errLi, Mingfeng; Lay, Kenneth; Zimmer, Andreas; Technau-Hafsi, Kristin; Wong, Jasmine; Reimer-Taschenbrecker, Antonia; Rohr, Jan; Abdalla, Ebtesam; Fischer, Judith; Reversade, Bruno; Has, Cristina
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研究方向

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