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Nephron|March 28, 2024
Trigenic COL4A3/COL4A4/COL4A5 pathogenic variants in Alport syndrome: a case reportDipti Rao, Rutger Maas, Marlies Cornelissen, et al.
Nephron|September 14, 2018
Diagnosing Alport Syndrome: Lessons from the Pediatric WardPaul Vos, Robert Zietse, Michel van Geel, et al.
Molecular Genetics & Genomic Medicine|June 13, 2025
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-SequencingRick Kamps, Herm Martens, Bart de Koning, et al.
Archives of Dermatological Research|July 6, 2018
Phenotype variability in tumor disorders of the skin appendages associated with mutations in the CYLD geneLizelotte J M T Parren, Kathrin Giehl, Michel van Geel, et al.
Experimental Dermatology|January 17, 2009
Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?Maurice A M van Steensel, Michel van Geel, Sadhanna Badeloe, et al.
International Journal of Dermatology|December 6, 2007
Bullous congenital ichthyosiform erythroderma of BrocqMartina Kucharekova, Klara Mosterd, Veronique Winnepenninckx, et al.
Experimental Dermatology|January 6, 2015
Novel KRT83 and KRT86 mutations associated with monilethrixMaurice van Steensel, Maaike Vreeburg, Maria T Urbina, et al.
Dermatology (Basel, Switzerland)|September 4, 2023
Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the LiteratureJulia Clabbers, Noor van van Oosten, Marieke Bolling, et al.
The Journal of Investigative Dermatology|March 29, 2002
A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndromeMaurice A M van Steensel, Michel van Geel, Marc Nahuys, et al.
International Journal of Dermatology|November 15, 2008
Lymphedema-distichiasis syndrome: a distinct type of primary lymphedema caused by mutations in the FOXC2 geneMaaike Vreeburg, Martijn V Heitink, Robert J Damstra, et al.
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