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المؤلفون: Can Ficicioglu, Dena R. Matalon, Nicole Luongo, Caitlin Menello, Tracy Kornafel, Andrew J. Degnan

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: Mucopolysaccharidosis IVA, Enzyme replacement therapy, Anterior beaking, Platyspondyly, Diagnosis, Treatment, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4047ccdb58bb47e39d51151b229030e1

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المؤلفون: Ficicioglu, Can^Aff1, Matalon, Dena R., Luongo, Nicole, Menello, Caitlin, Kornafel, Tracy, Degnan, Andrew J.

المصدر: Orphanet Journal of Rare Diseases. 15(1)

المؤلفون: Philip Whalen, Nursen Gurtunca, E. Melissa Perez-Garcia

المصدر: AACE Clinical Case Reports. 8:89-92

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Long bone, Dehydroepiandrosterone, Bone age, General Medicine, medicine.disease, Short stature, Idiopathic short stature, medicine.anatomical_structure, Endocrinology, Dysplasia, Internal medicine, medicine, Platyspondyly, medicine.symptom, business, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5cac87ffec164fb0f23f22fea7a255c9
https://doi.org/10.1016/j.aace.2021.11.003

المؤلفون: Handa, Atsuhiko, Tham, Emma, Wang, Zheng, Horemuzova, Eva, Grigelioniene, Giedre

المصدر: Skeletal Radiology: Journal of the International Skeletal Society A Journal of Radiology, Pathology and Orthopedics. November 2016 45(11):1557-1560

المؤلفون: Arguello-Guerra, Vivian^Aff1_15, Shore, Eileen M.^Aff2_15, Kaplan, Fredrick S.^Aff3_15, Khurana, Jasvir S.^Aff4_15

المساهمون: Khurana, Jasvir S., editor^AffID1

المصدر: Bone Pathology. :239-248

المؤلفون: Daldrup‐Link, Heike E.^Aff1_574

المساهمون: Baert, Albert L., editor^Aff1

المصدر: Encyclopedia of Diagnostic Imaging. :411-416

المؤلفون: Beyhan Tüysüz, Evren Akpınar, Kaya Bilguvar, Dilek Uludağ Alkaya

المصدر: American Journal of Medical Genetics Part A. 185:2271-2277

مصطلحات موضوعية: 0301 basic medicine, Rib cage, business.industry, Metaphysis, Anatomy, 030105 genetics & heredity, medicine.disease, 03 medical and health sciences, Skull, Camptodactyly, Osteosclerosis, Diaphysis, 030104 developmental biology, medicine.anatomical_structure, Scapula, Genetics, medicine, Platyspondyly, medicine.symptom, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::82bad421a9d61261efe26d0c6168a9ee
https://doi.org/10.1002/ajmg.a.62198

المؤلفون: Giuseppe Bentivegna, Sandro Massimo Priola, Filomena Longo, Massimo Terzolo, Adriano Massimiliano Priola, M. Ventura, Andrea Veltri, Antonio Piga, Giangiacomo Osella, Alberto Angeli

المصدر: Journal of Clinical Densitometry. 21:507-516

مصطلحات موضوعية: Adult, Male, musculoskeletal diseases, 0301 basic medicine, Beta-thalassemia DXA platyspondyly TBS vertebral deformities, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, BETA THALASSEMIA MAJOR, Asymptomatic, Young Adult, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Lumbar, Trabecular bone score, Quality of life, Bone Density, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Orthopedics and Sports Medicine, Platyspondyly, Dual-energy X-ray absorptiometry, Retrospective Studies, Bone mineral, medicine.diagnostic_test, business.industry, beta-Thalassemia, Middle Aged, Spine, Cross-Sectional Studies, 030104 developmental biology, Cancellous Bone, Female, Radiology, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c807e723e42f561e6bc50f456ee7191a
https://doi.org/10.1016/j.jocd.2017.06.028