نتائج البحث - "Graversen, Lise"

1

دورية أكاديمية

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1:a single-center case series of 15 patients and seven novel TRPS1 variants

المؤلفون: Herlin, Laura Krogh, Herlin, Morten Krogh, Blechingberg, Jenny, Stausholm, Kirsten Rønholt, Graversen, Lise, Schmidt, Sigrun Alba Johannesdottir, Jørgensen, Mette Warming, Hellfritzsch, Michel Bach, Hald, Jannie Dahl, Beck-Nielsen, Signe Sparre, Gjørup, Hans, Andersen, Brian Nauheimer, Gregersen, Pernille Axél, Sommerlund, Mette

المصدر: Herlin , L K , Herlin , M K , Blechingberg , J , Stausholm , K R , Graversen , L , Schmidt , S A J , Jørgensen , M W , Hellfritzsch , M B , Hald , J D , Beck-Nielsen , S S , Gjørup , H , Andersen , B N , Gregersen , P A & Sommerlund , M 2024 , ' Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1 : a single-center case series of 15 patients and seven novel TRPS1 variants ' , European Journal of Medical Genetics ....

مصطلحات موضوعية: Ectodermal dysplasia, TRPS1, Tricho-rhino-phalangeal syndrome

العلاقة: https://pure.au.dk/portal/en/publications/0fb18e9c-892c-4ea5-9b15-1bf79f09f69eTest

الإتاحة: https://doi.org/10.1016/j.ejmg.2024.104937Test
https://pure.au.dk/portal/en/publications/0fb18e9c-892c-4ea5-9b15-1bf79f09f69eTest

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2

دورية أكاديمية

Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome

المؤلفون: Lalloo, Fiona, Kulkarni, Anju, Chau, Cindy, Nielsen, Maartje, Sheaff, Michael, Steele, Jeremy, van Doorn, Remco, Wadt, Karin, Hamill, Monica, Torr, Beth, Tischkowitz, Marc, Ahmed, Munaza, Bajalica-Lagercrantz, Svetlana, Blatnik, Ana, Brunet, Joan, Cleaver, Ruth, Colas, Chrystelle, Dabir, Tabib, Evans, D. Gareth, Feshtali, Shirin, Ghiorzo, Paola, Graversen, Lise, Griewank, Klaus, Helgadottir, Hildur, Jewell, Rosalyn, Kohut, Kelly, Lorentzen, Henrik, Massi, Daniela, Missotten, Guy, Murray, Alex, Murray, Jennie, Nadal, Ernest, Ong, Kai Ren, Piulats, Josep M., Puig, Susana, Rajan, Neil, Ribero, Simone, Salle, Galateau, Teulé, Alexandre, Tham, Emma, van Paassen, Barbara, De Putter, Robin, Verdijk, Robert, Wagner, Anja, Woodward, Emma R., Hanson, Helen

المصدر: Lalloo , F , Kulkarni , A , Chau , C , Nielsen , M , Sheaff , M , Steele , J , van Doorn , R , Wadt , K , Hamill , M , Torr , B , Tischkowitz , M , Ahmed , M , Bajalica-Lagercrantz , S , Blatnik , A , Brunet , J , Cleaver , R , Colas , C , Dabir , T , Evans , D G , Feshtali , S , Ghiorzo , P , Graversen , L , Griewank , K , Helgadottir , H , Jewell ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/a3e5a976-36fb-40d0-894f-88195dcdc2d3Test

الإتاحة: https://doi.org/10.1038/s41431-023-01448-zTest
https://pure.eur.nl/en/publications/a3e5a976-36fb-40d0-894f-88195dcdc2d3Test
https://pure.eur.nl/ws/files/99627608/Clinical_practice_guidelines_for_the_diagnosis_and_surveillance_of_BAP1_tumour_predisposition_syndrome.pdfTest
http://www.scopus.com/inward/record.url?scp=85168608297&partnerID=8YFLogxKTest

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3

دورية أكاديمية

Identifying primary and secondary MLH1 epimutation carriers displaying low-level constitutional MLH1 methylation using droplet digital PCR and genome-wide DNA methylation profiling of colorectal cancers

المصدر: Joo , J E , Mahmood , K , Walker , R , Georgeson , P , Candiloro , I , Clendenning , M , Como , J , Joseland , S , Preston , S , Graversen , L , Wilding , M , Field , M , Lemon , M , Wakeling , J , Marfan , H , Susman , R , Isbister , J , Edwards , E , Bowman , M , Kirk , J , Ip , E , McKay , L , Antill , Y , Hopper , J L , Boussioutas ....

مصطلحات موضوعية: Colorectal cancer, Genome wide DNA methylation, Lynch syndrome, MLH1 epimutation, MLH1 methylation, MMR deficiency

الإتاحة: https://doi.org/10.1186/s13148-023-01511-yTest
https://pure.au.dk/portal/da/publications/identifying-primary-and-secondary-mlh1-epimutation-carriers-displaying-lowlevel-constitutional-mlh1-methylation-using-droplet-digital-pcr-and-genomewide-dna-methylation-profiling-of-colorectal-cancersTest(0e1699e2-1d54-4a81-bdaf-067abd46398b).html
http://www.scopus.com/inward/record.url?scp=85160892976&partnerID=8YFLogxKTest

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4

دورية أكاديمية

Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.

المؤلفون: Herlin, Laura Krogh, Schmidt, Sigrun A. J., Hermann, Xenia Buus, Rønholt, Kirsten, Bygum, Anette, Schuster, Annette, Lei, Ulrikke, Mogensen, Mette, Vinding, Gabrielle R., Djursby, Malene, Hove, Hanne, Blechingberg, Jenny, Graversen, Lise, Mogensen, Trine H., Gjørup, Hans, Langan, Sinéad M., Sommerlund, Mette

المصدر: JAMA Dermatology; May2024, Vol. 160 Issue 5, p502-510, 9p

5

Aquagenic wrinkling of the palms is a rare dermatological disease associated with cystic fibrosis

المؤلفون: Frølunde, Anne Sofie, Graversen, Lise, Pallesen, Kristine Appel Uldall, Sommerlund, Mette

المصدر: Frølunde, A S, Graversen, L, Pallesen, K A U & Sommerlund, M 2021, ' Aquagenic wrinkling of the palms is a rare dermatological disease associated with cystic fibrosis ', Ugeskrift for Laeger, vol. 183, no. 19 .
Frølunde, A S, Graversen, L, Pallesen, K A U & Sommerlund, M 2021, ' Aquagenic wrinkling of the palms er en sjælden hudlidelse associeret til cystisk fibrose ', Ugeskrift for Læger, bind 183, nr. 19, V12200978 . < https://ugeskriftet.dk/videnskab/aquagenic-wrinkling-palms-er-ensjaeldenhudlidelseassocierettil-cystisk-fibroseTest >

مصطلحات موضوعية: body regions, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Rare Diseases, Cystic Fibrosis/complications, Humans, Water, Genetic Testing, skin and connective tissue diseases, Skin Aging

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::adcd01760c656532e88ee350331a0e22Test
https://pure.au.dk/portal/da/publications/aquagenic-wrinkling-of-the-palms-is-a-rare-dermatological-disease-associated-with-cystic-fibrosisTest(5f06dbec-6ab5-4d9e-92aa-8cc19fe6fb63).html

6

دورية أكاديمية

Prenatal parental separation and body weight, including development of overweight and obesity later in childhood

المؤلفون: Hohwü, Lena, Zhu, Jin Liang, Graversen, Lise, Li, Jiong, Sørensen, Thorkild I A, Obel, Carsten

المصدر: Hohwü , L , Zhu , J L , Graversen , L , Li , J , Sørensen , T I A & Obel , C 2015 , ' Prenatal parental separation and body weight, including development of overweight and obesity later in childhood ' , PloS one , vol. 10 , no. 3 , e0119138 , pp. 1-10 . https://doi.org/10.1371/journal.pone.0119138Test

الإتاحة: https://doi.org/10.1371/journal.pone.0119138Test
https://curis.ku.dk/portal/da/publications/prenatal-parental-separation-and-body-weight-including-development-of-overweight-and-obesity-later-in-childhoodTest(66ab1460-d7df-4dda-9e64-2a09b0c36957).html

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7

دورية أكاديمية

Prediction of adolescent and adult adiposity outcomes from early life anthropometrics

المؤلفون: Graversen, Lise, Sørensen, Thorkild I A, Gerds, Thomas A, Petersen, Liselotte, Sovio, Ulla, Kaakinen, Marika, Sandbaek, Annelli, Laitinen, Jaana, Taanila, Anja, Pouta, Anneli, Järvelin, Marjo-Riitta, Obel, Carsten

المصدر: Graversen , L , Sørensen , T I A , Gerds , T A , Petersen , L , Sovio , U , Kaakinen , M , Sandbaek , A , Laitinen , J , Taanila , A , Pouta , A , Järvelin , M-R & Obel , C 2015 , ' Prediction of adolescent and adult adiposity outcomes from early life anthropometrics ' , Obesity , vol. 23 , no. 1 , pp. 162-169 . https://doi.org/10.1002/oby.20921Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/oby.20921Test
https://curis.ku.dk/portal/da/publications/prediction-of-adolescent-and-adult-adiposity-outcomes-from-early-life-anthropometricsTest(65159d28-c150-4460-92c8-0cd7a07b6d47).html
https://curis.ku.dk/ws/files/247539964/Prediction_of_adolescent_and_adult_adiposity_outcomes_from_early_life_anthropometrics.pdfTest

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8

دورية أكاديمية

Aquagenic wrinkling of the palms er en sjælden hudlidelse associeret til cystisk fibrose ; Aquagenic wrinkling of the palms is a rare dermatological disease associated with cystic fibrosis

المؤلفون: Frølunde, Anne Sofie, Graversen, Lise, Pallesen, Kristine Appel Uldall, Sommerlund, Mette

المصدر: Frølunde , A S , Graversen , L , Pallesen , K A U & Sommerlund , M 2021 , ' Aquagenic wrinkling of the palms er en sjælden hudlidelse associeret til cystisk fibrose ' , Ugeskrift for Læger , bind 183 , nr. 19 , V12200978 . < https://ugeskriftet.dk/videnskab/aquagenic-wrinkling-palms-er-ensjaeldenhudlidelseassocierettil-cystisk-fibroseTest >

مصطلحات موضوعية: Adult, Cystic Fibrosis/complications, Genetic Testing, Humans, Rare Diseases, Skin Aging, Water

العلاقة: https://pure.au.dk/portal/da/publications/aquagenic-wrinkling-of-the-palms-er-en-sjaelden-hudlidelse-associeret-til-cystisk-fibroseTest(07b7bc69-f6e7-4865-9da1-e682c9aaa172).html

الإتاحة: https://pure.au.dk/portal/da/publications/aquagenic-wrinkling-of-the-palms-er-en-sjaelden-hudlidelse-associeret-til-cystisk-fibroseTest(07b7bc69-f6e7-4865-9da1-e682c9aaa172).html
https://ugeskriftet.dk/videnskab/aquagenic-wrinkling-palms-er-ensjaeldenhudlidelseassocierettil-cystisk-fibroseTest

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