نتائج البحث - "Hereditary* / diagnosis"

1

دورية أكاديمية

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.

المؤلفون: Kessler, Christoph, Serna-Higuita, Lina M, Schöls, Ludger, Martus, Peter, Schüle-Freyer, Rebecca, Rattay, Tim W, Maetzler, Walter, Wurster, Isabel, Hayer, Stefanie, Wilke, Carlo, Hengel, Holger, Reichbauer, Jennifer, Armbruster, Marcel

المصدر: Annals of Clinical and Translational Neurology 8(5), 1122 - 1131 (2021). doi:10.1002/acn3.51358

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, Adolescent, Adult, Age Factors, Aged, Biomarkers: cerebrospinal fluid, Cross-Sectional Studies, Female, Humans, Male, Middle Aged, Neurofilament Proteins: cerebrospinal fluid, Sex Factors, Spastic Paraplegia, Hereditary: cerebrospinal fluid, Hereditary: diagnosis, Young Adult

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/issn/2328-9503; info:eu-repo/semantics/altIdentifier/pmid/pmid:33819388; https://pub.dzne.de/record/157807Test; https://pub.dzne.de/search?p=id:%22DZNE-2021-01264%22Test

الإتاحة: https://doi.org/10.1002/acn3.51358Test
https://pub.dzne.de/record/157807Test
https://pub.dzne.de/search?p=id:%22DZNE-2021-01264%22Test

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2

دورية أكاديمية

Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps

المؤلفون: Jelsig, Anne Marie, Rønlund, Karina, Gede, Lene Bjerring, Frederiksen, Jane Hübertz, Karstensen, John Gásdal, Birkedal, Ulf, van Overeem Hansen, Thomas

المصدر: Jelsig , A M , Rønlund , K , Gede , L B , Frederiksen , J H , Karstensen , J G , Birkedal , U & van Overeem Hansen , T 2023 , ' Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps ' , Journal of Human Genetics , vol. 68 , pp. 721-724 . https://doi.org/10.1038/s10038-023-01174-wTest

مصطلحات موضوعية: Hamartoma, Hamartoma Syndrome, Multiple/diagnosis, Humans, Male, Middle Aged, Neoplastic Syndromes, Hereditary/diagnosis, PTEN Phosphohydrolase/genetics, Rectal Neoplasms

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/a89acb47-4f61-4140-b8df-66d10ec98b6fTest

الإتاحة: https://doi.org/10.1038/s10038-023-01174-wTest
https://portal.findresearcher.sdu.dk/da/publications/a89acb47-4f61-4140-b8df-66d10ec98b6fTest

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3

دورية أكاديمية

Skin cancer associated genodermatoses:A literature review

المؤلفون: Schierbeck, Juliane, Vestergaard, Tine, Bygum, Anette

المصدر: Schierbeck , J , Vestergaard , T & Bygum , A 2019 , ' Skin cancer associated genodermatoses : A literature review ' , Acta Dermato-Venereologica , vol. 99 , no. 4 , pp. 360-369 . https://doi.org/10.2340/00015555-3123Test

وصف الملف: application/pdf

العلاقة: https://portal.findresearcher.sdu.dk/da/publications/d7528101-a0a5-4c64-991c-50ad4060b385Test

الإتاحة: https://doi.org/10.2340/00015555-3123Test
https://portal.findresearcher.sdu.dk/da/publications/d7528101-a0a5-4c64-991c-50ad4060b385Test
https://findresearcher.sdu.dk/ws/files/149348345/Skin_cancer_associated_genodermatoses.pdfTest

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4

دورية أكاديمية

Clinical Features of Hereditary Angioedema in Korean Patients: A Nationwide Multicenter Study

المساهمون: Jung J.-W., Suh D.I., Park H.J., Kim S., Kwon H. S., Yang M. S., Park C.S., Kim J.-H., Kim S.-H., Lee Y.W., Hur G.Y., Ye Y.-M., Kwon Y.E., Park H.-K., Kim C.W., Koh Y.-I., Park J.W., Lee J.-M., Min K.-U., Wickner P., Kang H.-R., Park, Hye Jung

مصطلحات موضوعية: Adult, Angioedemas, Hereditary/complications, Hereditary/diagnosis, Hereditary/drug therapy, Danazol/therapeutic use, Delayed Diagnosis, Female, Humans, Male, Middle Aged, Republic of Korea, Retrospective Studies, Angioedema, Complement C1s esterase inhibitor proteins, Hereditary angioedema types I and II, Koreans, Mortality

العلاقة: INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY; J01074; OAK-2018-10253; https://ir.ymlib.yonsei.ac.kr/handle/22282913/167160Test; https://www.karger.com/Article/FullText/488350Test; T201805362; INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY, Vol.176(3~4) : 272-279, 2018

الإتاحة: https://doi.org/10.1159/000488350Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/167160Test
https://www.karger.com/Article/FullText/488350Test

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5

دورية أكاديمية

Hereditary angioedema - a rare but potentially life-threatening condition! / Hereditaert angioödem - en sjaelden, men potentielt livstruende tilstand!

المؤلفون: Elkjaer Andersen, Rikke, Sauer Mikkelsen, Carsten, Bygum, Anette

المصدر: Månedsskrift for Almen Praksis. 94(12):908

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6

دورية أكاديمية

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy

المساهمون: College of Medicine, Dept. of Ophthalmology, Christopher Seungkyu Lee, Ikhyun Jun, Seung-il Choi, Ji Hwan Lee, Min Goo Lee, Sung Chul Lee, Eung Kweon Kim, Kim, Eung Kweon, Lee, Min Goo, Lee, Sung Chul, Lee, Seung Kyu, Lee, Ji Hwan, Jun, Ik Hyun, Choi, Seung Il

العلاقة: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; J01187; OAK-2015-06712; https://ir.ymlib.yonsei.ac.kr/handle/22282913/157069Test; T201505232; INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, Vol.56(13) : 8141-8150, 2015

الإتاحة: https://doi.org/10.1167/iovs.15-18168Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/157069Test

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النص الكامل

7

دورية أكاديمية

Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.

المؤلفون: Louati, Y., Vaclavik, V., Moulin, A., Schorderet, D., Munier, F.L., Viet Tran, H.

المصدر: Ophthalmic genetics, vol. 42, no. 6, pp. 773-779

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34310258; info:eu-repo/semantics/altIdentifier/eissn/1744-5094; https://serval.unil.ch/notice/serval:BIB_422F0C6C589FTest; urn:issn:1381-6810

الإتاحة: https://doi.org/10.1080/13816810.2021.1952620Test
https://serval.unil.ch/notice/serval:BIB_422F0C6C589FTest

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