المؤلفون: Stina Lou, Pernille Axel Gregersen, Mikkel Funding, Steen F Urbak, Jan Alsner, Maja H Olsen, Jens Overgaard, Sandra E Staffieri

المصدر: BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

العلاقة: https://bmjophth.bmj.com/content/6/1/e000760.fullTest; https://doaj.org/toc/2397-3269Test

الوصول الحر: https://doaj.org/article/f8ae4ce979a04587b9150df92024c391Test

المؤلفون: Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Achondroplasia, Registry, Real-world data, Real-world evidence, Growth, Quality of life, Medicine

العلاقة: https://doi.org/10.1186/s13023-023-02755-wTest; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933Test

الإتاحة: https://doi.org/10.1186/s13023-023-02755-wTest
https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933Test

المؤلفون: Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)

مصطلحات موضوعية: Achondroplasia, Skeletal dysplasia, Fibroblast growth factor receptor 3 (FGFR3), Natural history, Disease burden, Medicine

العلاقة: https://doi.org/10.1186/s13023-023-02652-2Test; https://doaj.org/toc/1750-1172Test; https://doaj.org/article/396b4128425f4efaa0a0c79776e03d51Test

الإتاحة: https://doi.org/10.1186/s13023-023-02652-2Test
https://doaj.org/article/396b4128425f4efaa0a0c79776e03d51Test

المؤلفون: Jannie Dahl Hald, Signe Beck-Nielsen, Pernille Axel Gregersen, Hans Gjørup, Bente Langdahl

المصدر: Hald, J D, Beck-Nielsen, S, Gregersen, P A, Gjørup, H & Langdahl, B 2023, ' Pycnodysostosis in children and adults ', Bone, vol. 169, 116674 . https://doi.org/10.1016/j.bone.2023.116674Test

مصطلحات موضوعية: Histology, Cathepsin K gene, Physiology, Facial dysmorphology, Endocrinology, Diabetes and Metabolism, Pycnodysostosis, Acro-osteolysis, Osteosclerosis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4e2db663a0b2fc5ef59cfa35d2b1c5cTest
https://pure.au.dk/portal/da/publications/pycnodysostosis-in-children-and-adultsTest(80ab3499-07fa-4df4-8b06-5218b759ec91).html

المؤلفون: Jannie Dahl Hald, Signe Beck-Nielsen, Pernille Axel Gregersen, Hans Gjørup, Bente Langdahl

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: History, Polymers and Plastics, Business and International Management, Industrial and Manufacturing Engineering

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a45cb55d667d658026eac52959ddac22Test
https://doi.org/10.2139/ssrn.4240401Test

المؤلفون: Mikkel Funding, Pernille Axel Gregersen, Stina Lou, Steen F Urbak, Maja Halgren Olsen, Jan Alsner, Sandra E Staffieri, Jens Overgaard

المصدر: BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)
Gregersen, P A, Funding, M, Alsner, J, Olsen, M H, Overgaard, J, Urbak, S F, Staffieri, S E & Lou, S 2021, ' Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic : 'That is exactly what i have been missing' ', BMJ Open Ophthalmology, vol. 6, no. 1, e000760 . https://doi.org/10.1136/bmjophth-2021-000760Test

مصطلحات موضوعية: retina, medicine.medical_specialty, Activities of daily living, business.industry, Retinoblastoma, Health related, Second cancer, RE1-994, medicine.disease, humanities, eye diseases, Social life, Ophthalmology, Family medicine, Survivorship curve, medicine, Daily living, genetics, business, Psychosocial

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9cb86d4752a91b16a1bdd9abf3c72edTest
https://bmjophth.bmj.com/content/6/1/e000760.fullTest

المؤلفون: Brian Nauheimer Andersen, Trine Bjørg Hammer, Niels Ove Illum, Dorte L Lildballe, Naja Becher, Lotte Andreasen, Mikkel Ø Andersen, Pernille Axel Gregersen, Jens Erik K Nielsen, Mette B Thorup, Christina Fagerberg, Emilie Erbs, Anders Bojesen, Charlotte Brasch-Andersen, Monica Zilmer, Soren L Faergeman, Maria Rasmussen

المصدر: Faergeman, S L, Bojesen, A B, Rasmussen, M, Becher, N, Andreasen, L, Andersen, B N, Erbs, E, Lildballe, D L, Nielsen, J E K, Zilmer, M, Hammer, T B, Andersen, M, Brasch-Andersen, C, Fagerberg, C R, Illum, N O, Thorup, M B & Gregersen, P A 2021, ' Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome : Five Danish patients with novel variants in AHDC1 ', European Journal of Medical Genetics, vol. 64, no. 9, 104280 . https://doi.org/10.1016/j.ejmg.2021.104280Test

مصطلحات موضوعية: Adult, Foot Deformities, Male, AHDC1, Adolescent, Developmental Disabilities, Biology, Frameshift mutation, Craniofacial Abnormalities, Loss of heterozygosity, Young Adult, Neurodevelopmental disorder, Intellectual disability, Genetics, medicine, Humans, Frameshift Mutation, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Whole exome sequencing, Syndrome, General Medicine, medicine.disease, Phenotype, Hypotonia, DNA-Binding Proteins, Dysmorphism, Muscle Hypotonia, Female, medicine.symptom, Xia-gibbs syndrome, Reverse phenotyping

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2a837f458f7e2a5fd2ac2ccec4c7260Test
https://portal.findresearcher.sdu.dk/da/publications/3079a8e4-54f3-4794-9118-690af5b3853aTest

المؤلفون: Cecilie Ejerskov, Pernille Axel Gregersen, Mette Møller Handrup, Maj Raundahl

المصدر: Orphanet Journal of Rare Diseases
Ejerskov, C, Raundahl, M, Gregersen, P A & Handrup, M M 2021, ' Clinical features and disease severity in patients with mosaic neurofibromatosis type 1 : a single-center study and literature review ', Orphanet Journal of Rare Diseases, vol. 16, 180 . https://doi.org/10.1186/s13023-021-01796-3Test
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Language delay, Review, Severity of Illness Index, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Plexiform neurofibroma, medicine, Neurofibroma, Humans, Pharmacology (medical), NF1 guideline, Neurofibromatosis, Child, Genetics (clinical), Retrospective Studies, Neurofibroma, Plexiform, business.industry, Mosaicism, General Medicine, Guideline, medicine.disease, NF1 gene, 030220 oncology & carcinogenesis, Cohort, Medicine, Autism, Female, business, Complication, Mosaic, Follow-Up Studies, Neurofibromatosis type 1

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fcd02a75e139ec06f5ba7b90ae58ff2Test
https://doi.org/10.21203/rs.3.rs-96774/v1Test

المؤلفون: Susanne Oksbjerg Dalton, Mikkel Funding, Pernille Axel Gregersen, Steen F Urbak, Maja Halgren Olsen, Jan Alsner, Jens Overgaard

المصدر: JAMA Network Open
Gregersen, P A, Olsen, M H, Urbak, S F, Funding, M, Dalton, S O, Overgaard, J & Alsner, J 2020, ' Incidence and Mortality of Second Primary Cancers in Danish Patients With Retinoblastoma, 1943-2013 ', JAMA network open, vol. 3, no. 10, e2022126 . https://doi.org/10.1001/jamanetworkopen.2020.22126Test

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Denmark, Retinal Neoplasms, Kaplan-Meier Estimate, Interquartile range, Risk Factors, Internal medicine, medicine, Humans, Cumulative incidence, Mortality, Retrospective Studies, Original Investigation, business.industry, Retinoblastoma, Incidence (epidemiology), Research, Incidence, Absolute risk reduction, Cancer, Retrospective cohort study, Neoplasms, Second Primary, General Medicine, Middle Aged, medicine.disease, eye diseases, Cancer registry, Online Only, Oncology, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efe6f2748a649f94e1bd295d57ce9c61Test
http://europepmc.org/articles/PMC7582127Test

المؤلفون: Angelo Selicorni, Oliver Semler, Awi Wiesel, Diana-Alexandra Ertl, Klaus Mohnike, Silvia Tajè, Giuseppe Zampino, Karen E. Heath, James Jarrett, Pernille Axel Gregersen, Lars Hagenäs, Anna Elsa Maria Allegri, Luiz Causin, Jennifer Quinn, Adalbert Raimann, Mohamad Maghnie, Antonio Gonzalez-Meneses Lopez, Renée Shediac, Swati Mukherjee, Gabriele Haeusler, Encarna Guillén-Navarro, Vanesa López González, Fernando Santos Simarro, Erik Landfeldt, Antonio Leiva-Gea

المصدر: Molecular Genetics and Metabolism. 132:S127-S128

مصطلحات موضوعية: Health related quality of life, Gerontology, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Biochemistry, Endocrinology, Multinational corporation, Genetics, Medicine, Observational study, Achondroplasia, business, Molecular Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1890e334cc9f102dfcab7b3c50ef3c16Test
https://doi.org/10.1016/s1096-7192Test(21)00280-8