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1دورية أكاديمية
المصدر: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW, Vol 4, p Doc11 (2015)
مصطلحات موضوعية: neurofibromatosis type 1, gynaecomastia, neurofibroma, breast surgery, Surgery, RD1-811
وصف الملف: electronic resource
العلاقة: http://www.egms.de/static/en/journals/iprs/2015-4/iprs000070.shtmlTest; https://doaj.org/toc/2193-8091Test
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2دورية أكاديمية
المؤلفون: Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A, Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J, Friedman, Jan M, Gutmann, David H, Kehrer-Sawatzki, Hildegard, Korf, Bruce R, Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A, Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A, Tadini, Gianluca, Ullrich, Nicole J, Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M, Evans, D Gareth, Plotkin, Scott R
المصدر: Genetics in Medicine. 23(8)
مصطلحات موضوعية: Biological Sciences, Genetics, Neurosciences, Rare Diseases, Clinical Research, Neurofibromatosis, Cafe-au-Lait Spots, Consensus, Genetic Testing, Humans, Neurofibromatosis 1, International Consensus Group on Neurofibromatosis Diagnostic Criteria, Clinical Sciences, Genetics & Heredity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7j03w3x3Test
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3دورية أكاديمية
المؤلفون: Kehrer-Sawatzki, Hildegard, Kluwe, Lan, Salamon, Johannes, Well, Lennart, Farschtschi, Said, Rosenbaum, Thorsten, Mautner, Victor-Felix
مصطلحات موضوعية: Neurofibromatosis type 1, NF1 microdeletion, Cognitive impairment, Attention deficit hyperactivity disorder (ADHD), DDC 610 / Medicine & health, Neurofibromatosis 1, Neurofibroma, Autism spectrum disorder, Attention deficit disorder with hyperactivity, Cognitive dysfunction, Neurofibromatose, Autismus, Aufmerksamkeitsdefizit-Syndrom, Kognitive Störung
وصف الملف: application/pdf
العلاقة: https://static-content.springer.com/esm/art%3A10.1007%2Fs00381-020-04717-0/MediaObjects/381_2020_4717_MOESM1_ESM.pptxTest; https://static-content.springer.com/esm/art%3A10.1007%2Fs00381-020-04717-0/MediaObjects/381_2020_4717_MOESM2_ESM.docxTest; http://dx.doi.org/10.18725/OPARU-49579Test; https://oparu.uni-ulm.de/xmlui/123456789/49655Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-49655-7Test
الإتاحة: https://doi.org/10.18725/OPARU-49579Test
https://oparu.uni-ulm.de/xmlui/123456789/49655Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-49655-7Test -
4دورية أكاديمية
المساهمون: Pasmant, Eric
مصطلحات موضوعية: neurofibromatosis type 1, NF1, NF1 microdeletions, genotype/phenotype correlations, SUZ12, CRLF3, genodermatosis, DDC 570 / Life sciences, DDC 610 / Medicine & health, Neurofibromatoses, Genetics, Neurofibromatosis 1, Genes, Neurofibromatose, Genetik, Genmutation, Genodermatose
وصف الملف: application/pdf
العلاقة: https://www.mdpi.com/article/10.3390/genes12101639/s1Test; http://dx.doi.org/10.18725/OPARU-50126Test; https://oparu.uni-ulm.de/xmlui/123456789/50202Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-50202-7Test
الإتاحة: https://doi.org/10.18725/OPARU-50126Test
https://oparu.uni-ulm.de/xmlui/123456789/50202Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-50202-7Test -
5دورية أكاديمية
المؤلفون: Farschtschi, Said C., Mainka, Tina, Glatzel, Markus, Hannekum, Anna-Lena, Hauck, Michael, Gelderblom, Mathias, Hagel, Christian, Friedrich, Reinhard E., Schuhmann, Martin U., Schulz, Alexander, Morrison, Helen, Kehrer-Sawatzki, Hildegard, Luhmann, Jan, Gerloff, Christian, Bendszus, Martin, Bäumer, Philipp, Mautner, Victor-Felix
مصطلحات موضوعية: Schwannomatosis, small-fiber neuropathy, MR-neurography, fascicular microlesions, DDC 610 / Medicine & health, Neurofibromatoses, Small fiber neuropathy, Pain, Nervous system, Diagnostic imaging, Neurofibromatose, Schmerz
وصف الملف: application/pdf
العلاقة: http://dx.doi.org/10.18725/OPARU-47915Test; https://oparu.uni-ulm.de/xmlui/123456789/47991Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-47991-3Test
الإتاحة: https://doi.org/10.18725/OPARU-47915Test
https://oparu.uni-ulm.de/xmlui/123456789/47991Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-47991-3Test -
6دورية أكاديمية
المؤلفون: Özden, Cansu, Mautner, Victor‐Felix, Farschtschi, Said, Molwitz, Isabel, Ristow, Inka, Bannas, Peter, Well, Lennart, Klutmann, Susanne, Adam, Gerhard, Apostolova, Ivayla, Buchert, Ralph
المصدر: Journal of Neuroimaging ; volume 34, issue 1, page 138-144 ; ISSN 1051-2284 1552-6569
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7دورية أكاديمية
المؤلفون: Kluwe, Lan, Friedrich, Reinhard E., Farschtschi, Said C., Hagel, Christian, Kehrer‐Sawatzki, Hildegard, Mautner, Victor‐Felix
مصطلحات موضوعية: NF1 deletion, DDC 570 / Life sciences, Lipoma, Neurofibromatosis 1, Pheochromocytoma, Homologous recombination, Mosaicism, Lipom, Neurofibromatose, Phäochromozytom
وصف الملف: application/pdf
العلاقة: https://databases.lovd.nl/shared/variants/0000602980Test; http://dx.doi.org/10.18725/OPARU-42172Test; https://oparu.uni-ulm.de/xmlui/123456789/42248Test; http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-42248-1Test
الإتاحة: https://doi.org/10.18725/OPARU-42172Test
https://oparu.uni-ulm.de/xmlui/123456789/42248Test
http://nbn-resolving.de/urn:nbn:de:bsz:289-oparu-42248-1Test -
8دورية أكاديمية
المؤلفون: Plotkin, Scott R., Messiaen, Ludwine, Legius, Eric, Pancza, Patrice, Avery, Robert A., Blakeley, Jaishri O., Babovic-Vuksanovic, Dusica, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Giovannini, Marco, Gutmann, David H., Hanemann, Clemens Oliver, Kalamarides, Michel, Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor Felix, MacCollin, Mia, Papi, Laura, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Smith, Miriam J., Stemmer-Rachamimov, Anat, Stevenson, David A., Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Wolkenstein, Pierre, Evans, D. Gareth
المصدر: International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC) , Plotkin , S R , Messiaen , L , Legius , E , Pancza , P , Avery , R A , Blakeley , J O , Babovic-Vuksanovic , D , Ferner , R , Fisher , M J , Friedman , J M , Giovannini , M , Gutmann , D H , Hanemann , C O , Kalamarides , M , Kehrer-Sawatzki , H , Korf , B R , Mautner , V F , MacCollin , M , Papi , L , Rauen , K A , ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.gim.2022.05.007Test
https://pure.eur.nl/en/publications/502b5714-4be0-4958-9a29-b8eb1490dc2cTest
https://pure.eur.nl/ws/files/86507007/1_s2.0_S1098360022007730_main.pdfTest
http://www.scopus.com/inward/record.url?scp=85132738125&partnerID=8YFLogxKTest -
9دورية أكاديمية
المؤلفون: Wang, Su, Friedman, Jan M., Suppa, Per, Buchert, Ralph, Mautner, Victor-Felix
المساهمون: Bundesverband Neurofibromatose organization
المصدر: Orphanet Journal of Rare Diseases ; volume 17, issue 1 ; ISSN 1750-1172
مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine
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10دورية أكاديمية
المصدر: Frontiers in Psychology ; volume 13 ; ISSN 1664-1078