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

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/396b4128425f4efaa0a0c79776e03d51Test

المؤلفون: Diana-Alexandra Ertl, Justin Le Lorier, Andreas Gleiss, Séverine Trabado, Candace Bensignor, Christelle Audrain, Volha Zhukouskaya, Régis Coutant, Jugurtha Berkenou, Anya Rothenbuhler, Gabriele Haeusler, Agnès Linglart

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: X-linked hypophosphatemia (XLH), Burosumab, Growth, Recombinant human growth hormone, Children, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/699a007222eb4987bb113e9ef42cf39aTest

المؤلفون: Ana Luisa Priego Zurita, Agnès Linglart, Inês Alves, Renata Simona Auriemma, Manila Boarini, Jillian Bryce, Luisa DeSanctis, Diana-Alexandra Ertl, Hoong-Wei Gan, Corinna Grasemann, Wolfgang Högler, M. Kassim Javaid, Klaus Mohnike, Marina Mordenti, Adalbert Raimann, Luca Sangiorgi, Marco Roos, Rebecca Skarberg, Ondrej Soucek, Judit Toke, Erica van den Akker, Almudena Vicente, Ahmed S. Faisal, Natasha Appelman-Dijkstra

المصدر: Bone Reports, Vol 14, Iss , Pp 100849- (2021)

مصطلحات موضوعية: Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352187221001042Test; https://doaj.org/toc/2352-1872Test

الوصول الحر: https://doaj.org/article/5a07502701ed4f5b8c8c47da1b13c184Test

المؤلفون: Adalbert Raimann, Eva Pairitsch, Diana-Alexandra Ertl, Gabriele Haeusler

المصدر: Bone Reports, Vol 13, Iss , Pp 100705- (2020)

مصطلحات موضوعية: Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2352187220304654Test; https://doaj.org/toc/2352-1872Test

الوصول الحر: https://doaj.org/article/cf4dacd2fe3b49aba941902eb71d147eTest

المؤلفون: Diana-Alexandra Ertl, Andreas Gleiss, Katharina Schubert, Caroline Culen, Peer Hauck, Johannes Ott, Alois Gessl, Gabriele Haeusler

المصدر: Endocrine Connections, Vol 7, Iss 4, Pp 1-10 (2018)

مصطلحات موضوعية: Turner syndrome, quality of life, health status, health care, follow-up, comorbidities, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: http://www.endocrineconnections.com/content/7/4/534.fullTest; https://doaj.org/toc/2049-3614Test

الوصول الحر: https://doaj.org/article/255eafc95e8c4697ae6ada96bde8a547Test

المؤلفون: Caroline Culen, Diana-Alexandra Ertl, Katharina Schubert, Lisa Bartha-Doering, Gabriele Haeusler

المصدر: Endocrine Connections, Vol 6, Iss 4, Pp R39-R51 (2017)

مصطلحات موضوعية: psychosocial care in endocrinology, psychological approach, x-linked, development in Turner syndrome, cognitive profile, psychosocial recommendations in peadiatrics, health autonomy, transition in endocrinological care, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: http://www.endocrineconnections.com/content/6/4/R39.fullTest; https://doaj.org/toc/2049-3614Test

الوصول الحر: https://doaj.org/article/b5aca5591ed24b29bd7fc0a106ed3d51Test

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: Maghnie, M, Semler, O, Guillen-Navarro, E, Selicorni, A, Heath, K E, Haeusler, G, Hagenäs, L, Merker, A, Leiva-Gea, A, González, V L, Raimann, A, Rehberg, M, Santos-Simarro, F, Ertl, D A, Gregersen, P A, Onesimo, R, Landfeldt, E, Jarrett, J, Quinn, J, Rowell, R, Pimenta, J, Cohen, S, Butt, T, Shediac, R, Mukherjee, S & Mohnike, K 2023, ' Lifetime impact of achondroplasia study in Europe (LIAISE) : findings from a multinational observational study ', Orphanet Journal of Rare Diseases, vol. 18, no. 1, 56 . https://doi.org/10.1186/s13023-023-02652-2Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11dfec7ac94b250d5e128980ec2c0d09Test
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaiseTest(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html

المؤلفون: Diana-Alexandra Ertl

المصدر: Journal für Klinische Endokrinologie und Stoffwechsel. 14:62-69

مصطلحات موضوعية: 0301 basic medicine, Gynecology, 03 medical and health sciences, medicine.medical_specialty, 030104 developmental biology, 0302 clinical medicine, business.industry, Endocrinology, Diabetes and Metabolism, Medicine, 030209 endocrinology & metabolism, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::935f5c0d0758131a8318c4aed822463fTest
https://doi.org/10.1007/s41969-021-00138-9Test

المؤلفون: Luisa De Sanctis, Francesca Elli, Guiomar Perez de Nanclares, Agnès Linglart, Susanne Thiele, Patrick Hanna, Giovanna Mantovani, Arrate Pereda, Bruno Francou, Diana-Alexandra Ertl, Anya Rothenbuhler

المصدر: European Journal of Endocrinology. 184:311-320

مصطلحات موضوعية: Male, Proband, Endocrinology, Diabetes and Metabolism, Disease, Bioinformatics, 0302 clinical medicine, Endocrinology, Medicine, Young adult, Child, General Medicine, Middle Aged, Italy, Molecular Diagnostic Techniques, Parathyroid Hormone, Child, Preschool, Pseudohypoparathyroidism, 030220 oncology & carcinogenesis, Female, France, medicine.symptom, Signal Transduction, Adult, medicine.medical_specialty, Adolescent, 030209 endocrinology & metabolism, Osteochondrodysplasias, Short stature, Young Adult, 03 medical and health sciences, Rare Diseases, Intellectual Disability, Terminology as Topic, Internal medicine, Humans, Gene Silencing, Aged, Retrospective Studies, business.industry, Ossification, Heterotopic, Brachydactyly, Infant, Newborn, Parathyroid Hormone-Related Protein, Dysostoses, Infant, Retrospective cohort study, medicine.disease, Spain, Mutation, business, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed366eeccbdb7c81d1ae32fe02f6f812Test
https://doi.org/10.1530/eje-20-0625Test

المؤلفون: Diana Alexandra Ertl, Natasha M. Appelman-Dijkstra, M. Carola Zillikens, Lars Rjenmark, Elizabeth M. Winter

المساهمون: Internal Medicine

المصدر: Endocrine
Appelman-Dijkstra, N M, Ertl, D A, Carola Zillikens, M, Rjenmark, L & Winter, E M 2021, ' Hypercalcemia during pregnancy : management and outcomes for mother and child ', Endocrine, vol. 71, no. 3, pp. 604-610 . https://doi.org/10.1007/s12020-021-02615-2Test
Endocrine, 71(3), 604-610. Humana Press
Endocrine, 71(3), 604-610. SPRINGER

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Pediatrics, medicine.medical_specialty, endocrine system diseases, Familial hypocalciuric hypercalcemia, Endocrinology, Diabetes and Metabolism, Primary hyperparathyroidism, chemistry.chemical_element, 030209 endocrinology & metabolism, Clinical Management of Endocrine Diseases, Calcium, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, SDG 3 - Good Health and Well-being, Pregnancy, Diabetes mellitus, Lactation, Medicine, Calcium metabolism, Fetus, Parathyromatosis, business.industry, nutritional and metabolic diseases, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, chemistry, Hypercalcemia, business, hormones, hormone substitutes, and hormone antagonists

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d7b2fb7e85df7c3ca3901c756984ca0Test
http://europepmc.org/articles/PMC8016748Test