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1دورية أكاديمية
المؤلفون: Jonathan Shintaku, Wolfgang M. Pernice, Wafaa Eyaid, Jeevan B. GC, Zuben P. Brown, Marti Juanola-Falgarona, Javier Torres-Torronteras, Ewen W. Sommerville, Debby M.E.I. Hellebrekers, Emma L. Blakely, Alan Donaldson, Ingrid van de Laar, Cheng-Shiun Leu, Ramon Marti, Joachim Frank, Kurenai Tanji, David A. Koolen, Richard J. Rodenburg, Patrick F. Chinnery, H.J.M. Smeets, Gráinne S. Gorman, Penelope E. Bonnen, Robert W. Taylor, Michio Hirano
المصدر: The Journal of Clinical Investigation, Vol 132, Iss 13 (2022)
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1558-8238Test
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2
المؤلفون: Hannie C. W. Douben, Mark Nellist, Leontine van Unen, Peter Elfferich, Esmee Kasteleijn, Marianne Hoogeveen‐Westerveld, Jesse Louwen, Monique van Veghel‐Plandsoen, Walter de Valk, Jasper J. Saris, Femke Hendriks, Esther Korpershoek, Lies H. Hoefsloot, Margreethe van Vliet, Yolande van Bever, Ingrid van de Laar, Emmelien Aten, Augusta M. A. Lachmeijer, Walter Taal, Lisa van den Bersselaar, Juliette Schuurmans, Rianne Oostenbrink, Rick van Minkelen, Yvette van Ierland, Tjakko J. van Ham
المساهمون: Clinical Genetics, Erasmus MC other, Pathology, Neurology, Pediatrics
المصدر: Human Mutation, 43(12), 2130-2140. Wiley-Liss Inc.
Human Mutation: Variation, Informatics and Disease, 43(12), 2130-2140. WILEY-HINDAWIمصطلحات موضوعية: Neurofibromatosis 1, Neurofibromin 1, RNA Splicing, RNA-sequencing, DNA, Fibroblasts, mRNA splicing, neurofibromatosis type 1, molecular diagnostics, noncoding variants, Mutation, Genetics, Humans, Genetics (clinical), exon skipping
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3d626b36d5a4ec4586b987251a1250Test
https://hdl.handle.net/1887/3563778Test