Found: 14
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Kosaki Overgrowth Syndrome: Report of a Family with a Novel PDGFRB Variant.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 38, doi. 10.1159/000517978
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- Publication type:
- Article
AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1228, doi. 10.1002/ajmg.a.62072
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- Publication type:
- Article
Achondroplasia: Really rhizomelic?
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2039, doi. 10.1002/ajmg.a.37776
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- Publication type:
- Article
Pediatric radiology in the diagnosis and management of skeletal dysplasias - welcome to the era of genomic medicine and modern drug pipelines.
- Published in:
- 2020
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- Publication type:
- journal article
Major skull manifestations of skeletal dysplasias - pictorial essay.
- Published in:
- 2020
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- Publication type:
- journal article
Coronavirus disease 2019 (COVID-19) in children: a systematic review of imaging findings.
- Published in:
- Pediatric Radiology, 2020, v. 50, n. 9, p. 1217, doi. 10.1007/s00247-020-04726-w
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- Publication type:
- Article
A review of imaging protocols for suspected skeletal dysplasia and a proposal for standardisation.
- Published in:
- 2015
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- Publication type:
- journal article
Contrast-enhanced magnetic resonance angiography for the detection of crossing renal vessels in children with symptomatic ureteropelvic junction obstruction: comparison with operative findings.
- Published in:
- 2007
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- Publication type:
- journal article
Duplicated left pulmonary artery: an unknown disease? Three case reports and review of the literature.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00993-0
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- Publication type:
- Article
Characterization of Bardet-Biedl syndrome by postmortem microfocus computed tomography (micro-CT).
- Published in:
- 2019
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- Publication type:
- Case Study
Association of pulmonary sling and atypical tracheal tree arrangement in a young girl.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00993-0
- By:
- Publication type:
- Article
Lung infections in immunocompromised children.
- Published in:
- Pediatric Radiology, 2024, v. 54, n. 4, p. 530, doi. 10.1007/s00247-023-05735-1
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- Publication type:
- Article