المساهمون: College of Medicine, Dept. of Orthopedic Surgery, Yun-Jung Lim, Hye-Ran Lee, Ok-Hwa Kim, Tae-Joon Cho, Kun-Bo Park, Park, Kun Bo

مصطلحات موضوعية: Adolescent, Child, Diagnosis, Differential, Humans, Male, Osteochondrodysplasias/diagnostic imaging, Brachyolmia, Metaphyseal striations, TRPV4

العلاقة: SKELETAL RADIOLOGY; J02660; OAK-2017-04869; https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795Test; https://link.springer.com/article/10.1007%2Fs00256-017-2684-8Test; T201703328; SKELETAL RADIOLOGY, Vol.46(9) : 1297-1300, 2017

الإتاحة: https://doi.org/10.1007/s00256-017-2684-8Test
https://ir.ymlib.yonsei.ac.kr/handle/22282913/160795Test

المؤلفون: Koray Boduroğlu, Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Goknur Haliloglu, Ibrahim Oncel, Gülen Eda Utine

المصدر: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 32

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Turkey, TRPV Cation Channels, Short stature, 03 medical and health sciences, Young Adult, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Child, Bone Diseases, Developmental, Congenital distal spinal muscular atrophy, Genetic heterogeneity, business.industry, Infant, Autosomal dominant brachyolmia, General Medicine, Neuromuscular Diseases, medicine.disease, Peripheral neuropathy, Phenotype, Spondyloepiphyseal dysplasia Maroteaux type, Dysplasia, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67145dbff2f537f0547a5e9ce2e8507Test
https://pubmed.ncbi.nlm.nih.gov/33774370Test

المؤلفون: Hye Ran Lee, Tae Joon Cho, Ok Hwa Kim, Kun-Bo Park, Yun Jung Lim

المصدر: Skeletal radiology. 46(9)

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, TRPV4, Male, medicine.medical_specialty, Adolescent, business.industry, Radiography, Metaphyseal striations, Autosomal dominant brachyolmia, Metaphysis, Anatomy, Osteochondrodysplasias, Diagnosis, Differential, 03 medical and health sciences, 030104 developmental biology, medicine.anatomical_structure, Orthopedic surgery, medicine, Humans, Radiology, Nuclear Medicine and imaging, Platyspondyly, business, Child, Pelvis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5273b93a479669894e82c236c3c665daTest
https://pubmed.ncbi.nlm.nih.gov/28601949Test

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

المصدر: Skeletal radiology. 45(11)

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, Aging, Osteochondrodysplasias, Brachyolmia, Diagnosis, Differential, 03 medical and health sciences, Deformity, Medicine, Humans, Radiology, Nuclear Medicine and imaging, Platyspondyly, Child, Genetic testing, medicine.diagnostic_test, business.industry, Infant, Anatomy, 030104 developmental biology, In utero, Radiological weapon, Child, Preschool, Orthopedic surgery, Disease Progression, Radiography, Thoracic, medicine.symptom, Differential diagnosis, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98550ac8c29fdf75dfb11701433a7735Test
https://pubmed.ncbi.nlm.nih.gov/27544198Test

المؤلفون: Joe J. Hoo, Michael Oliphant

المصدر: American Journal of Medical Genetics. :80-84

مصطلحات موضوعية: Male, Adolescent, Birth weight, Short stature, Bone and Bones, Brachyolmia, Inheritance Mode, Humans, Medicine, Platyspondyly, Child, Genetics (clinical), Bone Diseases, Developmental, business.industry, Siblings, Puberty, Anatomy, medicine.disease, Osteochondrodysplasia, Short trunk, Short femoral neck, Radiography, Female, medicine.symptom, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f469d2c1865c2ea75698898cad5c41fTest
https://doi.org/10.1002/ajmg.a.10875Test

المؤلفون: M.J. Rodovalho, R. Antequera, Chong Ae Kim, Débora Romeo Bertola, Isabel Furquim, Luiz Antônio Nunes Oliveira, Rachel Sayuri Honjo, Lilian Maria José Albano

المصدر: American journal of medical genetics. Part A. (3)

مصطلحات موضوعية: Orthodontics, Adult, Male, Adolescent, business.industry, Amelogenesis Imperfecta, Siblings, Dental dysplasia, Consanguinity, medicine.disease, Osteochondrodysplasia, Spine, Brachyolmia, Musculoskeletal Abnormalities, Radiography, Oral and maxillofacial pathology, Genetics, Medicine, Humans, Amelogenesis imperfecta, business, Child, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c5c8552ca5349d38b432d9a4040c452Test
https://pubmed.ncbi.nlm.nih.gov/19213025Test

المؤلفون: Shigeru Nakamura, Kozo Nakamura, Akira Nagano, Shiro Ikegawa

المصدر: Journal of Pediatric Orthopaedics. 15:105-107

مصطلحات موضوعية: Joint Instability, Male, business.industry, Ossification, General Medicine, Anatomy, Osteochondrodysplasias, medicine.disease, Brachyolmia, Radiography, Atlanto-Occipital Joint, Dysplasia, Atlantoaxial instability, Pediatrics, Perinatology and Child Health, Humans, Medicine, Orthopedics and Sports Medicine, Platyspondyly, medicine.symptom, Child, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be81b15556fbfcb067bf20192b0c5565Test
https://doi.org/10.1097/01241398-199501000-00023Test

المؤلفون: Mordechai Shohat, Gadi Horev, Boaz Karmazyn, Masza Mukamel, Liat de Vries

المصدر: American journal of medical genetics. Part A. (2)

مصطلحات موضوعية: Adult, Male, Spinal stenosis, Osteochondrodysplasias, Short stature, Brachyolmia, Genetic Heterogeneity, Spinal Stenosis, medicine, Humans, Platyspondyly, Child, Genetics (clinical), Genetic heterogeneity, business.industry, Siblings, Anatomy, medicine.disease, Osteochondrodysplasia, Radiography, Stenosis, Dysplasia, Female, medicine.symptom, business, Follow-Up Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9b14f8cc514a53540522766143b9f73Test
https://pubmed.ncbi.nlm.nih.gov/12833413Test

المؤلفون: L Grain, E G Davies, G Thompson, O Duke

المصدر: Archives of Disease in Childhood. 71:448-449

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Toledo type brachyolmia, business.industry, Corneal opacity, Dwarfism, Short stature, Spine, Brachyolmia, Radiography, Corneal Opacity, Pediatrics, Perinatology and Child Health, medicine, Humans, Spondylodysplasia, medicine.symptom, Child, business, Research Article

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c39e0aa5084b58b3c62962efd4fb3f9aTest
https://doi.org/10.1136/adc.71.5.448Test

المؤلفون: Jessica Gardner, Peter Beighton

المصدر: American journal of medical genetics. 49(3)

مصطلحات موضوعية: Adult, Male, Dwarfism, Syndrome, Biology, medicine.disease, Osteochondrodysplasia, Autosomal dominant form, Spine, Brachyolmia, Radiography, Scoliosis, Evolutionary biology, medicine, Humans, Platyspondyly, Female, Child, Kyphoscoliosis, Genetics (clinical), Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a974b61f26b2d1cedfce62ad2efed583Test
https://pubmed.ncbi.nlm.nih.gov/8209891Test