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1
An Uncommon Reason of Osteoporosis: Spondyloepiphyseal Dysplasia Congenita
Published 2017-12-01Subjects: Get full text
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2
Transient Neonatal Hyperparathyroidism Unfolding a Noteworthy Cause: A Series of Four Cases
Published 2025-02-01Subjects: Get full text
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3
Juvenile idiopathic arthritis or skeletal dysplasia: first case report of camptodactyly-arthropathy-coxa vara-pericarditis from Iran
Published 2025-08-01Subjects: Get full text
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4
The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve–wiedemann Syndrome: Retrospective Case Series and Prenatal Review
Published 2025-04-01Subjects: Get full text
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5
Frontometaphyseal dysplasia associated with the FLNA p.G1576R variant
Published 2025-01-01Subjects: Get full text
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6
Unilateral Combined Radial and Ulnar Dysplasia: A Rare Paediatric Case
Published 2025-08-01Subjects: Get full text
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7
Adults with achondroplasia exhibit a high probability of specific micronutrient inadequacy and low physical activity levels: a cross-sectional study
Published 2025-07-01Subjects: “…Skeletal dysplasia…”
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9
Sequential prenatal diagnosis of fetal skeletal dysplasia: A cohort study
Published 2025-05-01Subjects: Get full text
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10
Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection
Published 2025-01-01Subjects: Get full text
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11
Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency
Published 2016-11-01Subjects: Get full text
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12
Evaluation of AAV vectors with tissue-specific or ubiquitous promoters in a mouse model of mucopolysaccharidosis type IVA
Published 2025-06-01Subjects: Get full text
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13
A Study on the Correlation of Biparietal Diameter and Femur Length with Increased Nuchal Translucency in First Trimester
Published 2025-04-01Subjects: Get full text
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14
Schimke immune-osseous dysplasia at the junction of specialties. A clinical case of disease diagnosis by allergologists and immunologists
Published 2025-06-01Subjects: Get full text
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16
Case Report: Holistic approach to management of an infant with severe osteogenesis imperfecta in the neonatal intensive care unit
Published 2025-06-01Subjects: Get full text
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17
Differential diagnosis of juvenile idiopathic arthritis and multiple epiphyseal dysplasia: Experience of multidisciplinary interaction
Published 2023-10-01Subjects: Get full text
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18
The use and experience of the national disability insurance scheme for Australians with skeletal dysplasia: a mixed-methods study
Published 2025-03-01Subjects: “…Skeletal dysplasias…”
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