Michel van Geel - Department of Clinical Genetics, Maastricht University Medical Center

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论文共 17 篇作者统计合作学者相似作者

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Alitretinoin as a treatment modality for ichthyosis in women of childbearing age - a case series and review of the literature

Julia Clabbers, Noor van Oosten,Marieke Bolling,Maaike Vreeburg,Michel van Geel, Peter Steijlen,Antoni Gostynski

DERMATOLOGY（2024）

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Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige,Helen Storey,Elizabeth Watson,Jens Michael Hertz,Constantinos Deltas,Alessandra Renieri,Francesca Mari,Pascale Hilbert,Pavlina Plevova,Peter Byers,Agne Cerkauskaite,Martin Gregory,

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary findings

Katarzyna Wertheim-Tysarowska,Katarzyna Osipowicz,Katarzyna Woźniak,Justyna Sawicka, Adrianna Mika,Anna Kutkowska-Kaźmierczak,Katarzyna Niepokój, Agnieszka Sobczyńska-Tomaszewska,Bartłomiej Wawrzycki,Aldona Pietrzak,Robert Śmigiel,Bartosz Wojtaś,

crossref（2024）

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819 International cohort of 19 patients with CARD14-associated papulosquamous eruption: The quest for a genotype-phenotype correlation and successful therapeutic intervention

V. Rossel, A. Baniel, K. Wertheim-Tysarowska, M. Seyger, L. Spruijt, M. Bekkenk, M. Vreeburg, E. Sprecher, P. Steijlen,M. van Geel, A. Gostynski

Journal of Investigative Dermatology（2023）

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Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 FamiliesPlain Language Summary

Sander Groen in ’t Woud, Ilse M. Rood,Eric Steenbergen,Brigith Willemsen,Henry B. Dijkman,Michel van Geel,Jeroen Schoots,Jack F.M. Wetzels,Dorien Lugtenberg,Jeroen K.J. Deegens,Ernie M.H.F. Bongers

Kidney Medicineno. 4 (2023): 100607

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Expanding the spectrum of autosomal recessive congenital ichthyosis caused by variants in NIPAL4 and PNPLA1 and evaluation of biologics interventions

V. Rossel,J. Clabbers, P. Steijlen,P. van den Akker, P. Spuls, M. Middelkamp-Hup,M. van Maarle, M. Vreeburg, M. Bolling,M. van Geel, A. Gostynski

Journal of Investigative Dermatologyno. 5 (2023): S141-S141

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Influence of pathogenic filaggrin variants on dupilumab treatment in atopic dermatitis

J. Clabbers, C. Boesjes, L. Spekhorst,M. van Geel, P. Steijlen,M. de Bruin-Weller, A. Gostynski

JOURNAL OF INVESTIGATIVE DERMATOLOGYno. 5 (2023): S101-S101

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Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome

Yanshan Liu,Siddharth Banka,Yingzhi Huang,Jonathan Hardman-Smart,Derek Pye,Antonio Torrelo,Glenda M Beaman,Marcelo G Kazanietz,Martin J Baker,Carlo Ferrazzano,Chenfu Shi,Gisela Orozco,

Br J Dermatol（2022）

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185 Alitretinoin as an alternative treatment for inherited diseases of keratinization in childbearing age women – a case series and literature review

J.M. Clabbers, N. van Oosten, M. Vreeburg,M. van Geel, A. Gostynski

JOURNAL OF INVESTIGATIVE DERMATOLOGY（2021）

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085 Hypohidrosis, ichthyosis and hypokalemia: HELIX syndrome

L. Fertitta, M.C. Bolling,R. Vargas,P.C. van den Akker,E. Bourrat,M. van Geel,B. Knebelmann,S. Leclerc-Mercier,P. Houillier, S. Hadj-Rabia

Journal of Investigative Dermatology（2021）

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