Van Geel M - Medical Centre, Maastricht University

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论文共 144 篇作者统计合作学者相似作者

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Evolution of Genome Diagnostics in Epidermolysis Bullosa: Unveiling the Power of Next-Generation Sequencing

R. Baardman,H. H. Lemmink,V. K. Yenamandra, S. Z. Commandeur-Jan, M. Viel, K. A. Kooi,G. F. H. Diercks,R. Meijer,M. van Geel,H. Scheffer,R. J. Sinke,B. Sikkema-Raddatz,M. C. Bolling,P. C. van den Akker

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY（2024）

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Variants in the L12 Linker Domain of KRT10 Are Causal to Atypical Epidermolytic Ichthyosis

J. J. A. J. van der Velden,M. W. van Gisbergen, M. A. F. Kamps, R. Janssen,G. F. H. Diercks,P. M. Steijlen,M. van Geel,M. C. Bolling

The Journal of dermatologyno. 9 (2024): 1180-1186

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HRAS mosaicism in linear palmoplantar keratoderma

J. M. K. Clabbers,G. M. J. M. Roemen,N. Rajan,A. Shah, P. Woo,M. Arefi,M. Vreeburg,P. M. Steijlen,A. Gostynski,M. van Geel

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY（2023）

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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

The journal of investigative dermatology/Journal of investigative dermatology（2023）

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824 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)

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Expanding the Molecular and Clinical Spectrum of Autosomal Recessive Congenital Ichthyosis Caused by Pathogenic Variants in NIPAL4 and PNPLA1 and Evaluation of Novel Therapeutic Interventions

S V J Rossel,J M K Clabbers,P M Steijlen,P C van den Akker,P I Spuls, M A Middelkamp Hup,M C van Maarle,M Vreeburg,M C Bolling,M van Geel,A Gostyński

Journal of the European Academy of Dermatology and Venereology JEADVno. 12 (2023): e1405-e1409

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HRAS Mosaicism in Linear Palmoplantar Keratoderma

J. M. K. Clabbers,G. M. J. M. Roemen,N. Rajan, A. Shah, P. Woo,M. Arefi,M. Vreeburg, P. M. Steijlen,A. Gostyński,M. van Geel

Journal of the European Academy of Dermatology and Venereologyno. 5 (2023)

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A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome)

B. J. A. Verkouteren,B. Cosgun,M. G. H. C. Reinders,P. A. W. K. Kessler,R. J. Vermeulen,M. Klaassens,S. Lambrechts, J. R. van Rheenen,M. van Geel,M. Vreeburg,K. Mosterd

BRITISH JOURNAL OF DERMATOLOGY（2022）

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Pathogenic Neurofibromatosis Type 1 (NF1) RNA Splicing Resolved by Targeted RNAseq

R. Koster,R. D. Brandao,D. Tserpelis,C. E. P. van Roozendaal,C. N. van Oosterhoud,K. B. M. Claes,A. D. C. Paulussen,M. Sinnema,M. Vreeburg,V van der Schoot,C. T. R. M. Stumpel,M. P. G. Broen,L. Spruijt,M. C. J. Jongmans,S. A. J. Lesnik Oberstein,A. S. Plomp, M. Misra-Isrie, F. A. Duijkers, M. J. Louwers, R. Szklarczyk,K. W. J. Derks,H. G. Brunner,A. van den Wijngaard,M. van Geel,M. J. Blok

medRxiv (Cold Spring Harbor Laboratory)（2021）

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