المؤلفون: Sellmer, Laura, Farschtschi, Said, Marangoni, Marco, Heran, Manraj K S, Birch, Patricia, Wenzel, Ralph, Mautner, Victor-Felix, Friedman, Jan M

المساهمون: Children's Hospital (Vancouver, B.C.)

مصطلحات موضوعية: Optic pathway glioma, Neurofibromatosis 1, Cohort study, Glioma, Adults, Children

العلاقة: Orphanet Journal of Rare Diseases. 2018 Apr 23;13(1):62; http://hdl.handle.net/2429/65789Test

الإتاحة: http://hdl.handle.net/2429/65789Test

المؤلفون: Sellmer, Laura, Farschtschi, Said, Marangoni, Marco, Heran, Manraj K S, Birch, Patricia, Wenzel, Ralph, Friedman, Jan M, Mautner, Victor-Felix

مصطلحات موضوعية: Neurofibromatosis 1, Cohort study, Glioma, Adults, Children, Prospective

العلاقة: Orphanet Journal of Rare Diseases. 2017 Feb 15;12(1):34; http://hdl.handle.net/2429/60608Test

الإتاحة: https://doi.org/10.1186/s13023-017-0588-2Test
http://hdl.handle.net/2429/60608Test

المؤلفون: Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen B. M., Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Hoegel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David Neil, Kehrer-Sawatzki, Hildegard

مصطلحات موضوعية: QH426 Genetics, R Medicine (General)

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/83909/1/gb-2014-15-6-r80.pdfTest; Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen B. M., Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Hoegel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David Neil https://orca.cardiff.ac.uk/view/cardiffauthors/A0547623.htmlTest orcid:0000-0002-8943-8484 orcid:0000-0002-8943-8484 and Kehrer-Sawatzki, Hildegard 2014. SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biology 15 (6) , R80. 10.1186/gb-2014-15-6-r80 https://doi.org/10.1186/gb-2014-15-6-r80Test file https://orca.cardiff.ac.uk/id/eprint/83909/1/gb-2014-15-6-r80.pdfTest

الإتاحة: https://doi.org/10.1186/gb-2014-15-6-r80Test
https://orca.cardiff.ac.uk/id/eprint/83909Test/
http://genomebiology.com/2014/15/6/R80Test
https://orca.cardiff.ac.uk/id/eprint/83909/1/gb-2014-15-6-r80.pdfTest

المؤلفون: Wang, Su, Friedman, Jan M., Suppa, Per, Buchert, Ralph, Mautner, Victor-Felix

المصدر: Orphanet Journal of Rare Diseases; 3/5/2022, Vol. 17 Issue 1, p1-11, 11p

مصطلحات موضوعية: NEUROFIBROMATOSIS 1, NEUROFIBROMATOSIS 2, CORPUS callosum, MAGNETIC resonance imaging, PERIPHERAL nervous system, WHITE matter (Nerve tissue), MYELIN proteins

المؤلفون: Mussotter, Tanja, Kluwe, Lan, Hoegel, Josef, Nguyen, Rosa, Cooper, David Neil, Mautner, Victor-Felix, Kehrer-Sawatzki, Hildegard

مصطلحات موضوعية: R Medicine (General)

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/84054/1/1471-2350-13-98.pdfTest; Mussotter, Tanja, Kluwe, Lan, Hoegel, Josef, Nguyen, Rosa, Cooper, David Neil https://orca.cardiff.ac.uk/view/cardiffauthors/A0547623.htmlTest orcid:0000-0002-8943-8484 orcid:0000-0002-8943-8484, Mautner, Victor-Felix and Kehrer-Sawatzki, Hildegard 2012. Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions. BMC Medical Genetics 13 , 98. 10.1186/1471-2350-13-98 https://doi.org/10.1186/1471-2350-13-98Test file https://orca.cardiff.ac.uk/id/eprint/84054/1/1471-2350-13-98.pdfTest

الإتاحة: https://doi.org/10.1186/1471-2350-13-98Test
https://orca.cardiff.ac.uk/id/eprint/84054Test/
https://orca.cardiff.ac.uk/id/eprint/84054/1/1471-2350-13-98.pdfTest

المؤلفون: Depping, Miram K., Uhlenbusch, Natalie, von Kodolitsch, Yskert, Klose, Hans F. E., Mautner, Victor‑Felix, Löwe, Bernd, Mautner, Victor-Felix

المصدر: Orphanet Journal of Rare Diseases; 1/22/2021, Vol. 16 Issue 1, p1-10, 10p, 1 Diagram, 3 Charts, 1 Graph

المؤلفون: Vogt, Julia, Nguyen, Rosa, Kluwe, Lan, Schuhmann, Martin, Roehl, Angelika C, Mußotter, Tanja, Cooper, David Neil, Mautner, Victor-Felix, Kehrer-Sawatzki, Hildegard

مصطلحات موضوعية: QH426 Genetics

وصف الملف: application/pdf

العلاقة: https://orca.cardiff.ac.uk/id/eprint/84083/1/1752-1947-5-577.pdfTest; Vogt, Julia, Nguyen, Rosa, Kluwe, Lan, Schuhmann, Martin, Roehl, Angelika C, Mußotter, Tanja, Cooper, David Neil https://orca.cardiff.ac.uk/view/cardiffauthors/A0547623.htmlTest orcid:0000-0002-8943-8484 orcid:0000-0002-8943-8484, Mautner, Victor-Felix and Kehrer-Sawatzki, Hildegard 2011. Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports. Journal of Medical Case Reports 5 (1) , 577. 10.1186/1752-1947-5-577 https://doi.org/10.1186/1752-1947-5-577Test file https://orca.cardiff.ac.uk/id/eprint/84083/1/1752-1947-5-577.pdfTest

الإتاحة: https://doi.org/10.1186/1752-1947-5-577Test
https://orca.cardiff.ac.uk/id/eprint/84083Test/
https://orca.cardiff.ac.uk/id/eprint/84083/1/1752-1947-5-577.pdfTest

المؤلفون: Wang, Su¹ (AUTHOR), Mautner, Victor-Felix² (AUTHOR), Buchert, Ralph³ (AUTHOR), Flibotte, Stephane⁴ (AUTHOR), Suppa, Per⁵ (AUTHOR), Friedman, Jan M.¹ (AUTHOR) jan.friedman@ubc.ca, Heran, Manraj K. S.⁶ (AUTHOR)

المصدر: Orphanet Journal of Rare Diseases. 11/2/2021, Vol. 16 Issue 1, p1-12. 12p.

مصطلحات موضوعية: *ADULTS, *NEUROFIBROMATOSIS 1, *CORPUS callosum, *MAGNETIC resonance imaging, *MORPHOLOGY

المؤلفون: Avanesov, Maxim, Well, Lennart, Laqmani, Azien, Derlin, Thorsten, Riccardi, Vincent M., Adam, Gerhard, Mautner, Victor-Felix, Salamon, Johannes

المصدر: Orphanet Journal of Rare Diseases; 1/14/2021, Vol. 16 Issue 1, p1-10, 10p

مصطلحات موضوعية: COMPUTED tomography, SCHWANNOMAS, PLANT chromosomes, INTERSTITIAL lung diseases

المؤلفون: Farschtschi, Said, Mautner, Victor-Felix, Hollants, Silke, Hagel, Christian, Spaepen, Marijke, Schulte, Christoph, Legius, Eric, Brems, Hilde

وصف الملف: 2221051 bytes; application/pdf

العلاقة: BMC Medical Genetics vol:16 issue:1 pages:6; https://lirias.kuleuven.be/handle/123456789/495706Test; http://www.biomedcentral.com/1471-2350/16/6Test; https://lirias.kuleuven.be/bitstream/123456789/495706/1//Farschtschi+BMC+Med+Genet+2015.pdfTest

الإتاحة: https://lirias.kuleuven.be/handle/123456789/495706Test
http://www.biomedcentral.com/1471-2350/16/6Test
https://lirias.kuleuven.be/bitstream/123456789/495706/1//Farschtschi+BMC+Med+Genet+2015.pdfTest