Works matching DE "OSTEOCHONDRODYSPLASIAS"
Results: 140
Hiperostosis cortical postrauma. Presentación de un caso.
- Published in:
- Acta Ortopédica Mexicana, 2004, v. 18, n. 4, p. 160
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- Publication type:
- Article
Extensive fibrous dysplasia of skull base: case report.
- Published in:
- 2015
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- Publication type:
- Letter
Maffucci Syndrome.
- Published in:
- Bulletin of the Hospital for Joint Diseases, 2015, v. 73, n. 4, p. 282
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- Publication type:
- Article
Thanatophoric Dysplasia -- A case report.
- Published in:
- 2016
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- Publication type:
- Case Study
A rare case of Melnick Needles syndrome. Case report and brief review of literature.
- Published in:
- 2018
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- Publication type:
- Case Study
Kraniofacijalna fibrozna displazija kod starijih pacijenata: prikaz slučaja s pregledom literature.
- Published in:
- Acta Stomatologica Croatica, 2015, v. 49, n. 1, p. 60, doi. 10.15644/asc49/1/8
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- Publication type:
- Article
Early impairment of somatosensory evoked potentials in very young children with achondroplasia with foramen magnum stenosis.
- Published in:
- 2017
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- Publication type:
- journal article
Identifying spinal cord compression in achondroplasia - the role of somatosensory evoked potentials and the need for screening.
- Published in:
- 2017
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- Publication type:
- journal article
Monostotic fibrous dysplasia of jaw bones: a case series.
- Published in:
- BMC Oral Health, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12903-024-04894-3
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- Publication type:
- Article
Three-dimensional evaluation of dental characteristics in patients with Cleidocranial dysplasia.
- Published in:
- BMC Oral Health, 2024, v. 24, p. 1, doi. 10.1186/s12903-024-04353-z
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- Publication type:
- Article
Diagnosis: Mucosal Ulceration with Lingual Sequestration.
- Published in:
- Texas Dental Journal, 2020, v. 137, n. 7, p. 394
- Publication type:
- Article
TRACHEOBRONCHOPATHIA OSTEOCHONDROPLASTICA COMPLICATED BY BRONCHOPULMONARY NEOPLASM.
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- Acta Marisiensis. Seria Medica, 2024, v. 70, p. 228
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- Publication type:
- Article
Kniest dysplasia in girl aged 4 years: a case report.
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- Paediatrica Indonesiana, 2024, v. 64, n. 6, p. 287, doi. 10.14238/pi64.6.2024.559-62
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- Publication type:
- Article
Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3.
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- Human Genetics, 2015, v. 134, n. 7, p. 691, doi. 10.1007/s00439-015-1549-2
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- Publication type:
- Article
Osteochondroma of the Ventral Scapula Causing Scapular Static Winging and Secondary Rib Erosion.
- Published in:
- Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 5, p. 3, doi. 10.7860/JCDR/2014/8129.4335
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- Publication type:
- Article
Chondrodysplasia Punctata.
- Published in:
- 2014
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- Publication type:
- Case Study
Hereditary Osteochondrodysplasia in Scottish Fold Cats.
- Published in:
- Kafkas Universitesi Veteriner Fakultesi Dergisi, 2015, v. 21, n. 4, p. 463, doi. 10.9775/kvfd.2014.12555
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- Publication type:
- Article
A rare variant of Caffey's disease -- X-rays, bone scan and FDG PET findings.
- Published in:
- 2011
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- Publication type:
- Case Study
Nasu–Hakola disease – A rare type of presenile dementia.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Sclerostin in Mineralized Matrices and van Buchem Disease.
- Published in:
- Journal of Dental Research, 2009, v. 88, n. 6, p. 569, doi. 10.1177/0022034509338340
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- Publication type:
- Article
Orthodontic management of a patient with Schwartz-Jampel Syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
RUNX2 Nonsense Mutation Associated with Cleidocranial Dysplasia with Unusual Dental Features.
- Published in:
- Journal of Dentistry for Children, 2022, v. 89, n. 2, p. 126
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- Publication type:
- Article
Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
A Case of Syndromic X-linked Ichthyosis with Léri-Weill Dyschondrosteosis.
- Published in:
- 2016
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- Publication type:
- Case Study
Ultrasound and MRI comprehensive approach in prenatal diagnosis of fetal osteochondrodysplasias. Cases series.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Tracheobronchopathia osteochondroplastica following laryngeal tuberculosis.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
The Genetics Corner: Hypophosphatasia.
- Published in:
- Neonatology Today, 2020, v. 15, n. 10, p. 99, doi. 10.51362/neonatology.today/202010151099103
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- Publication type:
- Article
Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus.
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- Journal of Bone & Mineral Research, 2016, v. 31, n. 9, p. 1774, doi. 10.1002/jbmr.2842
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- Publication type:
- Article
Commentary on Sclerostin Deficiency Is Linked to Altered Bone Composition.
- Published in:
- 2014
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- Publication type:
- Other
Van Buchem disease: Clinical, biochemical, and densitometric features of patients and disease carriers.
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- Journal of Bone & Mineral Research, 2013, v. 28, n. 4, p. 848, doi. 10.1002/jbmr.1794
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- Publication type:
- Article
Glucocorticoids Are Not Always Deleterious for Bone.
- Published in:
- 2010
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- Publication type:
- Case Study
Generalized hypertrichosis after 5% minoxidil solution in trichorhinophalangeal syndrome: A case report and review of the literatures.
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- Indian Journal of Dermatology, 2023, v. 68, n. 1, p. 112, doi. 10.4103/ijd.ijd_41_23
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- Publication type:
- Article
A de novo, novel frameshift deletion in Conradi-Hünermann-Happle syndrome with ten-year follow-up from birth.
- Published in:
- 2022
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- Publication type:
- Case Study
Fibrochondrogenesis: Prenatal diagnosis and outcome.
- Published in:
- Journal of Obstetrics & Gynaecology, 2013, v. 33, n. 7, p. 665, doi. 10.3109/01443615.2013.817977
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- Publication type:
- Article
Pseudoachondroplasia: Similar radiographic findings to mucopolysaccharidosis.
- Published in:
- Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15799
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- Publication type:
- Article
Metaphyseal anadysplasia type 1: Familial and regressive rickets manifestation.
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- Pediatrics International, 2024, v. 66, n. 1, p. 1, doi. 10.1111/ped.15766
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- Publication type:
- Article
Trichorhinophalangeal syndrome type I associated with imperforate hymen.
- Published in:
- 2023
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- Publication type:
- Case Study
A case of osteopathia striata with cranial sclerosis with facial nerve palsies.
- Published in:
- 2023
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- Publication type:
- Case Study
Japanese siblings with cartilage‐hair hypoplasia exhibiting different severity.
- Published in:
- 2023
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- Publication type:
- Case Study
Stüve- Wiedemann syndrome in a neonate.
- Published in:
- Pediatrics International, 2015, v. 57, n. 2, p. 302, doi. 10.1111/ped.12431
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- Publication type:
- Article
Cinematic rendering of osteopoikilosis.
- Published in:
- 2024
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- Publication type:
- Case Study
Diagnosing Camurati–Engelmann disease—the age of whole-exome sequencing.
- Published in:
- Rheumatology, 2023, v. 62, n. 7, p. e221, doi. 10.1093/rheumatology/keac670
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- Publication type:
- Article
Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.
- Published in:
- Rheumatology, 2022, v. 61, n. 9, p. 3693, doi. 10.1093/rheumatology/keab926
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- Publication type:
- Article
Finding His Voice.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Denosumab in a child with fibrous dysplasia of bone: too much of a good thing?
- Published in:
- IBMS BoneKEy, 2012, v. 9, n. 9, p. 166, doi. 10.1038/bonekey.2012.166
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- Publication type:
- Article
Correction: A study on atypical Kashin–Beck disease: an endemic ankle arthritis.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
A study on atypical Kashin–Beck disease: an endemic ankle arthritis.
- Published in:
- Journal of Orthopaedic Surgery & Research, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13018-023-03633-8
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- Publication type:
- Article
Chondroectodermal Dysplasia: A Rare Syndrome.
- Published in:
- Journal of Dentistry of Tehran University of Medical Sciences, 2014, v. 11, n. 3, p. 361
- By:
- Publication type:
- Article
A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Fetal autopsy for the diagnosis of skeletal dysplasia and comparison with prenatal ultrasound findings over a 16-year period.
- Published in:
- Journal of Perinatal Medicine, 2022, v. 50, n. 9, p. 1239, doi. 10.1515/jpm-2022-0201
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- Publication type:
- Article