Works matching DE "SKELETAL dysplasia"
Results: 533
Current Overview of Osteogenesis Imperfecta.
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- Medicina (1010660X), 2021, v. 57, n. 5, p. 464, doi. 10.3390/medicina57050464
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- Article
The use and experience of the national disability insurance scheme for Australians with skeletal dysplasia: a mixed-methods study.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03630-6
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- Article
A CASE REPORT OF RECURRENT MESOMELIA SYNDROME.
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- Indian Obstetrics & Gynaecology, 2024, v. 14, n. 4, p. 21
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- Article
Endochondral growth zone pattern and activity in the zebrafish pharyngeal skeleton.
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- Developmental Dynamics, 2021, v. 250, n. 1, p. 74, doi. 10.1002/dvdy.241
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- Article
Atelosteogenesis Type I: Autopsy Findings.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 6, p. 496, doi. 10.2350/11-01-0969-CR.1
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- Article
Metabolomics profiling of cleidocranial dysplasia.
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- Clinical Oral Investigations, 2019, v. 23, n. 3, p. 1031, doi. 10.1007/s00784-018-2496-9
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- Article
A Non-Lethal Osteogenesis Imperfecta Type II Mutation.
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- 2019
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- Case Study
A heuristic model for cephalometric diagnosis of sagittal dysplasia.
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- Journal of Orthodontics, 2022, v. 49, n. 2, p. 163, doi. 10.1177/14653125211057561
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- Article
Proteoglycan Dysfunction as a Key Hallmark of Intervertebral Disc Degeneration: Commentary on "Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia".
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- Neurospine, 2024, v. 21, n. 1, p. 179, doi. 10.14245/ns.2448266.133
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- Article
Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia.
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- Neurospine, 2024, v. 21, n. 1, p. 162, doi. 10.14245/ns.2347342.671
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- Article
Health and Heritage: The Bioarchaeological Discovery of a Probable Case of Developmental Dysplasia in an Adult Subject.
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- Heritage (2571-9408), 2024, v. 7, n. 10, p. 5295, doi. 10.3390/heritage7100249
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- Article
Anesthesia Management in an Acondroplasic Patient Developing Cardiac Tamponade Due to Myxedema.
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- 2020
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- Case Study
Intra-Articular AAV9 α-l-Iduronidase Gene Replacement in the Canine Model of Mucopolysaccharidosis Type I.
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- Advances in Cell & Gene Therapy, 2023, p. 1, doi. 10.1155/2023/7419017
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- Article
Disability and Difference on the New Zealand Frontier: Possible Skeletal Dysplasia in Nineteenth-Century Milton, Otago.
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- Bioarchaeology International, 2021, v. 5, n. 3/4, p. 157, doi. 10.5744/bi.2021.0004
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- Article
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.
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- Human Genetics, 2024, v. 143, n. 2, p. 159, doi. 10.1007/s00439-023-02634-1
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- Article
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
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- Human Genetics, 2022, v. 141, n. 7, p. 1287, doi. 10.1007/s00439-021-02420-x
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- Article
Jürgen W. Spranger, Paula W. Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, and Sheila Unger: Bone dysplasias: an atlas of genetic disorders of skeletal development: Fourth Edition, ISBN: 9780190626655.
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- Human Genetics, 2019, v. 138, n. 7, p. 787, doi. 10.1007/s00439-019-02038-0
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- Article
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
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- Human Genetics, 2018, v. 137, n. 11/12, p. 905, doi. 10.1007/s00439-018-1950-8
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- Article
Morphology and development of a novel murine skeletal dysplasia.
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- PeerJ, 2019, p. 1, doi. 10.7717/peerj.7180
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- Article
Osteogenesis imperfecta: potential therapeutic approaches.
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- PeerJ, 2018, p. 1, doi. 10.7717/peerj.5464
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- Article
Síndrome de Jeune tipo II clínico y enfermedad renal crónica terminal. Reporte de caso.
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- Revista de Nefrología Diálisis y Trasplante, 2024, v. 44, n. 3, p. 151
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- Article
Interventions for improving clinical outcomes and health-related quality-of-life for people living with skeletal dysplasias: an evidence gap map.
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- Quality of Life Research, 2023, v. 32, n. 10, p. 2751, doi. 10.1007/s11136-023-03431-z
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- Article
Prevalence of mental health conditions and pain in adults with skeletal dysplasia.
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- 2019
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- journal article
A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.
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- Oxford Medical Case Reports, 2025, v. 2025, n. 1, p. 1, doi. 10.1093/omcr/omae169
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- Article
MiR-29a Family as a Key Regulator of Skeletal Muscle Dysplasia in a Porcine Model of Intrauterine Growth Retardation.
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- Biomolecules (2218-273X), 2022, v. 12, n. 9, p. 1193, doi. 10.3390/biom12091193
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- Article
Zebrafish mafbb Mutants Display Osteoclast Over-Activation and Bone Deformity Resembling Osteolysis in MCTO Patients.
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- Biomolecules (2218-273X), 2021, v. 11, n. 3, p. 480, doi. 10.3390/biom11030480
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- Article
Trabecular Bone Deficit and Enhanced Anabolic Response to Re-Ambulation after Disuse in Perlecan-Deficient Skeleton.
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- Biomolecules (2218-273X), 2020, v. 10, n. 2, p. 198, doi. 10.3390/biom10020198
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- Article
EP18.44: Ultrasound findings of triploidy at 16–17 weeks: a case report.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 293, doi. 10.1002/uog.28779
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- Article
EP18.39: Novel pathogenic variant in thyroid hormone receptor interactor 11 gene associated with skeletal dysplasia.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 292, doi. 10.1002/uog.28774
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- Article
EP08.04: Short femur: is it a marker for uteroplacental insufficiency?
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 184, doi. 10.1002/uog.28332
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- Article
EP07.28: Routine screening for fetal limb abnormalities in the first trimester.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 174, doi. 10.1002/uog.28277
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- Article
OP10.03: Fetal post‐mortem MRI examination: the potential of "black bone" imaging sequences for skeletal abnormalities.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 84, doi. 10.1002/uog.27952
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- Article
Intriguing link between fetal intracranial hemorrhage and X‐linked recessive chondrodysplasia punctata.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, n. 2, p. 259, doi. 10.1002/uog.27573
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- Article
Extended genetic testing in fetuses with sonographic skeletal system abnormalities.
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- 2022
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- journal article
VP33.11: Etiology and adverse outcomes in fetuses with short femur in different percentile categories.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 89, doi. 10.1002/uog.24511
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VP29.01: A case of fetal achondroplasia: ultrasonographic features.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 217, doi. 10.1002/uog.24442
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- Article
VP28.06: Which fetuses are indicated for prenatal‐targeted exome sequencing testing? Increased NT or structural anomalies?
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 213, doi. 10.1002/uog.24431
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- Article
VP16.16: Dyssegmental dysplasia: Silverman‐Handmarker type.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 167, doi. 10.1002/uog.24284
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- Article
VP10.06: Approach to the diagnosis of skeletal dysplasia: further validation of an indigenous model.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 132, doi. 10.1002/uog.24159
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- Article
Three-dimensional cinematic rendering of fetal skeletal dysplasia using postmortem computed tomography.
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- 2021
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- journal article
VP13.16: Utility of low‐dose abdominal CT in evaluation of fetal skeletal dysplasias.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 106, doi. 10.1002/uog.22525
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- Article
VP13.13: Prenatal ultrasound features of congenital spondyloepiphyseal dysplasia: a poorly understood bone disease.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 105, doi. 10.1002/uog.22522
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- Article
VP13.06: A QI project looking at outcomes of fetuses referred to FMU with short femur to establish if current referral criteria is valid and cost‐effective.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 103, doi. 10.1002/uog.22515
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- Article
VP13.05: Prenatal ultrasound diagnosis of fetal limb skeletal dysplasia.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 103, doi. 10.1002/uog.22514
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- Article
VP01.04: A case of concurrent Trisomy 18 and skeletal dysplasia.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 57, doi. 10.1002/uog.22348
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- Article
EP17.16: Case report: short rib polydactyly syndrome – type 2 (Majewski syndrome).
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 338, doi. 10.1002/uog.21457
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- Article
EP04.03: Skeletal dysplasia screening by NIPT for single‐gene disorders: clinical value of narrowing the differential diagnosis.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 249, doi. 10.1002/uog.21158
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- Article
EP06.28: Multiple fracture newborn after Caesarean delivery: an osteogenesis imperfecta – a case report.
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- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 218, doi. 10.1002/uog.19873
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- Article
EP06.26: Prenatal diagnosis of achondroplasia: case report.
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- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 217, doi. 10.1002/uog.19871
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- Article
EP06.05: A retrospective study on prenatal diagnosis of skeletal dysplasias in Chinese.
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- Ultrasound in Obstetrics & Gynecology, 2018, v. 52, p. 213, doi. 10.1002/uog.19850
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- Article