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1
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 -
2
المؤلفون: G. E. Lang, R. A. Pfeiffer, B. Laudi
المصدر: Klinische Monatsblätter für Augenheilkunde. 198:207-214
مصطلحات موضوعية: Retina, Pathology, medicine.medical_specialty, Skeletal anomalies, business.industry, Retinoschisis, Retinal detachment, medicine.disease, Brachyolmia, Ophthalmology, medicine.anatomical_structure, Medicine, Vitreoretinal dystrophy, business, Retinopathy, Retinal hole
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::81ed395f1ff9f91efa35f74ca2b07610Test
https://doi.org/10.1055/s-2008-1045954Test -
3
المؤلفون: Amy L. McNulty, Farshid Guilak, Wolfgang Liedtke, Holly A. Leddy
المصدر: Rare Diseases
مصطلحات موضوعية: TRPV4, medicine.medical_specialty, skeletal dysplasia, calcium signaling, Bone morphogenetic protein, 03 medical and health sciences, Transient receptor potential channel, 0302 clinical medicine, bone morphogenetic protein, growth plate, Internal medicine, medicine, cartilage, Endochondral ossification, 030304 developmental biology, Calcium signaling, 0303 health sciences, biology, Mechanism (biology), Cartilage, General Engineering, Addendum, 3. Good health, Cell biology, osteoarthritis, medicine.anatomical_structure, Endocrinology, arthritis, brachyolmia, biology.protein, arthropathy, 030217 neurology & neurosurgery, Follistatin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d5e9d243c0383db55e63e90bc0547cTest
https://doi.org/10.4161/2167549x.2014.962971Test -
4
المؤلفون: Ralph S. Lachman, Helen E. Gruber, David L. Rimoin, M. Shohat
المصدر: American journal of medical genetics. 33(2)
مصطلحات موضوعية: Adult, Male, Adolescent, Radiography, Genes, Recessive, Brachyolmia, medicine, Humans, Platyspondyly, Abnormalities, Multiple, Child, Genetics (clinical), Bone Diseases, Developmental, business.industry, Ossification, Genetic heterogeneity, Anatomy, medicine.disease, Costal cartilage, Pedigree, Falx cerebri, medicine.anatomical_structure, Dysplasia, Child, Preschool, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8760a0dc74a04909cf1131ffdda1b9c7Test
https://pubmed.ncbi.nlm.nih.gov/2669482Test