Works matching DE "OSTEOCHONDRODYSPLASIAS"
Results: 141
Challenges of Uncertainty in Prenatal Decision-Making: Skeletal Dysplasias.
- Published in:
- Journal of Law, Medicine & Ethics, 2024, v. 52, n. 2, p. 459, doi. 10.1017/jme.2024.100
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- Publication type:
- Article
IDIOPATHIC OSTEOSCIEROSIS (ENOSTOSIS, DENSE BONE SILANDS. FOCAL PERIAPICAL OSTEOPETROSIS).
- Published in:
- Quintessence International, 2004, v. 35, n. 7, p. 590
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- Publication type:
- Article
Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia.
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- Pediatric Nephrology, 2025, v. 40, n. 3, p. 701, doi. 10.1007/s00467-024-06503-5
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- Publication type:
- Article
Hyperostosis with hyperphosphatemia and tumoral calcinosis: a case report.
- Published in:
- 2007
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- Publication type:
- Report
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
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- Publication type:
- journal article
A novel single‐base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia.
- Published in:
- European Journal of Oral Sciences, 2023, v. 131, n. 1, p. 1, doi. 10.1111/eos.12910
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- Publication type:
- Article
Cantu syndrome in an Egyptian child.
- Published in:
- 2018
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- Publication type:
- Case Study
Removal notice to "An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings" [Egypt J Med Hum Genet 18 (2017) 393-396].
- Published in:
- Egyptian Journal of Medical Human Genetics, 2018, v. 19, n. 4, p. 443, doi. 10.1016/j.ejmhg.2018.04.004
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- Publication type:
- Article
An Egyptian patient with Schwartz-Jampel syndrome type I and new ocular findings.
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- Egyptian Journal of Medical Human Genetics, 2017, v. 18, n. 4, p. 393, doi. 10.1016/j.ejmhg.2017.06.001
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- Publication type:
- Article
Locomotor problems in broilers reared on new and re-used litter.
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- Italian Journal of Animal Science, 2013, v. 12, n. 2, p. 275, doi. 10.4081/ijas.2013.e45
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- Publication type:
- Article
Quantitative anatomy of the growing clavicle in the human fetus: CT, digital image analysis, and statistical study.
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- Surgical & Radiologic Anatomy, 2017, v. 39, n. 8, p. 827, doi. 10.1007/s00276-017-1821-3
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- 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
Schwartz-Jampel syndrome is not related to malignant hyperthermia.
- Published in:
- 2017
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- Publication type:
- Letter
Successful airway management using a MultiViewScope handle with a stylet scope in a patient with Schwartz-Jampel syndrome.
- Published in:
- JA Clinical Reports, 2016, v. 2, n. 1, p. 1, doi. 10.1186/s40981-016-0062-5
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- Publication type:
- Article
Maxillofacial Changes in Melnick-Needles Syndrome.
- Published in:
- 2016
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- Publication type:
- Case Study
Re-alignment-procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes.
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- Orthopaedic Surgery, 2013, v. 5, n. 1, p. 33, doi. 10.1111/os.12023
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- Publication type:
- Article
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
Diffuse idiopathic skeletal hyperostosis (DISH): an often missed diagnosis.
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- International Journal of Rheumatic Diseases, 2008, v. 11, n. 1, p. 66, doi. 10.1111/j.1756-185X.2008.00333.x
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- Publication type:
- Article
Monostotic fibrous dysplasia of jaw bones: a case series.
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- 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.
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- BMC Oral Health, 2024, v. 24, p. 1, doi. 10.1186/s12903-024-04353-z
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- Publication type:
- Article
The imaging feature in capsule endoscopy on Maffucci syndrome with intestinal hemangioma.
- Published in:
- 2015
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- Publication type:
- Letter
Screening of Proliferation-Related Genes and Pathological Changes in Thiram-Induced Tibial Dyschondroplasia.
- Published in:
- BioMed Research International, 2022, p. 1, doi. 10.1155/2022/6209047
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- Publication type:
- Article
Somatic activating mutations in MAP2K1 cause melorheostosis.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-03720-z
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- Publication type:
- Article
A rare cause of syndromic mitral valve prolapse.
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- European Heart Journal - Cardiovascular Imaging, 2024, v. 25, n. 7, p. e184, doi. 10.1093/ehjci/jeae027
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- Publication type:
- Article
LIVING WITH ACHONDROPLASIA – SOME MEDICAL AND SOCIAL ASPECTS.
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- Studia Universitatis Vasile Goldis Seria Stiintele Vietii (Life Sciences Series), 2013, v. 23, n. 3, p. 309
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- Publication type:
- Article
A Rare Case of Tracheobronchopathia Osteochondroplastica in Inflammatory Bowel Disease.
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- Journal of the Indian Academy of Clinical Medicine, 2024, v. 25, n. 3, p. 151
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- Publication type:
- Article
From Rarity to Reality: Nivelon-Nivelon-Mabille Syndrome Presenting with Renal Tubular Acidosis.
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- Indian Journal of Nephrology, 2024, v. 34, n. 6, p. 1, doi. 10.25259/IJN_308_2024
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- Publication type:
- Article
Polymorphism of MMP-3 gene and imbalance expression of MMP-3 / TIMP-1 in articular cartilage are associated with an endemic osteochondropathy, Kashin- Beck disease.
- Published in:
- 2022
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- Publication type:
- journal article
Utility of TRPS1 in Malignant Effusion Cytology.
- Published in:
- Acta Cytologica, 2023, v. 67, n. 3, p. 273, doi. 10.1159/000528249
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- Publication type:
- Article
Solitary C1 spinal osteochondroma causing vertebral artery compression and acute cerebellar infarct.
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- Skeletal Radiology, 2015, v. 44, n. 2, p. 299, doi. 10.1007/s00256-014-1974-7
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- Publication type:
- Article
Overview of Skeletal Dysplasias.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2024, v. 18, n. 1, p. 75, doi. 10.12956/tchd.1380641
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- Publication type:
- Article
Poster 127: Dysplasia Epiphysealis Hemimelica (Trevor's Disease) in a High School Basketball Player: A Case Report.
- Published in:
- 2009
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- Publication type:
- Abstract
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 342, doi. 10.1038/ejhg.2014.107
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- Publication type:
- Article
Nurses' Working Experiences of Their Provision of Cross-Cultural Services to Tibetan Patients With Kashin–Beck Disease: A Qualitative Study.
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- Journal of Transcultural Nursing, 2022, v. 33, n. 3, p. 363, doi. 10.1177/10436596221075979
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- Publication type:
- Article
Kraniofacijalna fibrozna displazija kod starijih pacijenata: prikaz slučaja s pregledom literature.
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- Acta Stomatologica Croatica, 2015, v. 49, n. 1, p. 60, doi. 10.15644/asc49/1/8
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- Publication type:
- Article
Síndrome otopalatodigital tipo II, aproximación prenatal y diagnóstico clínico de un caso complejo de displasia ósea.
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- Revista Chilena de Obstetricia y Ginecología, 2012, v. 77, n. 4, p. 310, doi. 10.4067/S0717-75262012000400013
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- Publication type:
- Article
Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.
- Published in:
- Indian Journal of Radiology & Imaging, 2024, v. 34, n. 2, p. 291, doi. 10.1055/s-0043-1777320
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- Publication type:
- Article
Ribbing disease.
- Published in:
- Indian Journal of Radiology & Imaging, 2010, v. 20, n. 1, p. 47, doi. 10.4103/0971-3026.59754
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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
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
运城市大骨节病区膳食营养结构调查.
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- Chinese Nursing Research, 2023, v. 37, n. 18, p. 3408, doi. 10.12102/j.issn.1009-6493.2023.18.033
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- Publication type:
- Article
Anaesthesia recommendations for Schwartz-Jampel syndrome.
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- Anaesthesiologie & Intensivmedizin, 2023, v. 64, p. 1
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- Publication type:
- Article
Larsen syndrome.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. S151, doi. 10.19224/ai2022.S151
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- Publication type:
- Article
Craniofacial and Dental Manifestations of Melnick–Needles Syndrome: Literature Review and Orthodontic Management.
- Published in:
- Case Reports in Pediatrics, 2018, p. 1, doi. 10.1155/2018/5891024
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- Publication type:
- Article
Increased FGFR3 is involved in T-2 toxin-induced lesions of hypertrophic cartilage associated with endemic osteoarthritis.
- Published in:
- Human & Experimental Toxicology, 2023, v. 42, p. 1, doi. 10.1177/09603271231219480
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- Publication type:
- Article
T-2 toxin induces articular cartilage damage by increasing the expression of MMP-13 via the TGF-β receptor pathway.
- Published in:
- Human & Experimental Toxicology, 2022, v. 41, p. 1, doi. 10.1177/09603271221075555
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- Publication type:
- Article
A Novel In-Frame Type Deletion in CHST3 Gene in A Patient with Spondyloepiphyseal Dysplasia.
- Published in:
- Journal of Harran University Medical Faculty / Harran Üniversitesi Tıp Fakültesi Dergisi, 2022, v. 19, n. 3, p. 658, doi. 10.35440/hutfd.1187444
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- Publication type:
- Article
Prevalence of T-2 Toxin in the Food and Beverages of Residents Living in a Kashin–Beck-Disease Area of Qamdo, Tibet.
- Published in:
- Nutrients, 2024, v. 16, n. 10, p. 1449, doi. 10.3390/nu16101449
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- Publication type:
- Article
Comparative Analysis of Gut Microbiota from Rats Induced by Se Deficiency and T-2 Toxin.
- Published in:
- Nutrients, 2023, v. 15, n. 24, p. 5027, doi. 10.3390/nu15245027
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- Publication type:
- Article