المؤلفون: Irma van de Beek, Iris E. Glykofridis, Michael W. T. Tanck, Monique N. H. Luijten, Theo M. Starink, Jesper A. Balk, Paul C. Johannesma, Eric Hennekam, Maurice J. B. van den Hoff, Quinn D. Gunst, Johan J. P. Gille, Abeltje M. Polstra, Pieter E. Postmus, Maurice A. M. van Steensel, Alex V. Postma, Rob M. F. Wolthuis, Fred H. Menko, Arjan C. Houweling, Quinten Waisfisz

المساهمون: Human Genetics, Epidemiology and Data Science, Medical Biology, ACS - Heart failure & arrhythmias, CCA - Cancer biology and immunology, Amsterdam Reproduction & Development (AR&D), Human genetics, Cancer Center Amsterdam, APH - Methodology, Dermatology, CCA - Cancer Treatment and quality of life, ACS - Atherosclerosis & ischemic syndromes

المصدر: van de Beek, I, Glykofridis, I E, Tanck, M W T, Luijten, M N H, Starink, T M, Balk, J A, Johannesma, P C, Hennekam, E, van den Hoff, M J B, Gunst, Q D, Gille, J J P, Polstra, A M, Postmus, P E, van Steensel, M A M, Postma, A V, Wolthuis, R M F, Menko, F H, Houweling, A C & Waisfisz, Q 2023, ' Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene ', Journal of human genetics, vol. 68, no. 4, pp. 273-279 . https://doi.org/10.1038/s10038-022-01113-1
Journal of human genetics. Nature Publishing Group
Journal of human genetics, 68(4), 273-279. Nature Publishing Group

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db2dc04d649ec5fe2082f5e11c601c87
http://www.scopus.com/inward/record.url?scp=85145610461&partnerID=8YFLogxK

المؤلفون: Irma, van de Beek, Iris E, Glykofridis, Michael W T, Tanck, Monique N H, Luijten, Theo M, Starink, Jesper A, Balk, Paul C, Johannesma, Eric, Hennekam, Maurice J B, van den Hoff, Quinn D, Gunst, Johan J P, Gille, Abeltje M, Polstra, Pieter E, Postmus, Maurice A M, van Steensel, Alex V, Postma, Rob M F, Wolthuis, Fred H, Menko, Arjan C, Houweling, Quinten, Waisfisz

المصدر: Journal of human genetics.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::11ec7f59be732481272141f4e70aa51f
https://pubmed.ncbi.nlm.nih.gov/36599954

المؤلفون: Joseph Kelich, Tomas Aramburu, Joanne J. van der Vis, Louise Showe, Andrew Kossenkov, Jasper van der Smagt, Maarten Massink, Angela Schoemaker, Eric Hennekam, Marcel Veltkamp, Coline H.M. van Moorsel, Emmanuel Skordalakes

المصدر: The Journal of experimental medicine. 219(5)

مصطلحات موضوعية: Immunology, Telomere-Binding Proteins, Immunology and Allergy, Humans, Telomere, Telomerase, Idiopathic Pulmonary Fibrosis, Shelterin Complex

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d9ef2aea75e026cba0e2dce60029d04
https://pubmed.ncbi.nlm.nih.gov/35420632

المؤلفون: Edo D, Elstak, Maroeska, te Loo, Kiki, Tesselaar, Peter, van Kerkhof, Jan, Loeffen, Dimitris, Grivas, Eric, Hennekam, Jaap Jan, Boelens, Peter M, Hoogerbrugge, Peter, van der Sluijs, Marielle E, van Gijn, Lisette, van de Corput

المصدر: Pediatric bloodcancer. 58(4)

مصطلحات موضوعية: Protein Folding, Tetraspanin 30, Membrane Proteins, Proteins, Cell Degranulation, Lymphohistiocytosis, Hemophagocytic, Protein Structure, Tertiary, Rats, Cell Line, Tumor, Proteolysis, Codon, Terminator, Animals, Humans, Point Mutation, Lysosomes, Netherlands

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ad13172fc9f392c3d9a803d0a9e1e3f2
https://pubmed.ncbi.nlm.nih.gov/21755595