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Amaka C. Offiah

University of Sheffield
Great Ormond Street Hospital
Boston Children's Hospital

238

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3363

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Monitoring Skull Base Abnormalities in Children with Osteogenesis Imperfecta – Review of Current Practice and a Suggested Clinical Pathway

2022 Bone
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Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.

2021 Journal of Medical Genetics
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Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.

2021 BMC Medical Genomics
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AIFM1-associated X-linked spondylometaphyseal dysplasia with cerebral hypomyelination

2021 American Journal of Medical Genetics Part A
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The diagnostic performance of chest computed tomography in the detection of rib fractures in children investigated for suspected physical abuse: a systematic review and meta-analysis.

2021 European Radiology
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834 Comparison of prevalence and characteristics of fractures in term and preterm infants in the first 3 years of life

2021 Archives of Disease in Childhood
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A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.

2021 Radiology Case Reports
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Validating scoring systems for fracture healing in infants and young children: pilot study.

2021 Pediatric Radiology
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Robinow syndrome in an extremely preterm infant: Novel homozygous ROR2 variant detected by rapid exome sequencing.

2021 American Journal of Medical Genetics Part A
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Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history

2021 Bone
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