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A rare cause of syndromic mitral valve prolapse.
- Published in:
- European Heart Journal - Cardiovascular Imaging, 2024, v. 25, n. 7, p. e184, doi. 10.1093/ehjci/jeae027
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- Publication type:
- Article
Cinematic rendering of osteopoikilosis.
- Published in:
- 2024
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- Publication type:
- Case Study
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
Prevalence of T-2 Toxin in the Food and Beverages of Residents Living in a Kashin–Beck-Disease Area of Qamdo, Tibet.
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- Nutrients, 2024, v. 16, n. 10, p. 1449, doi. 10.3390/nu16101449
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- Publication type:
- Article
Multi-Nodule of Large Airway: Tracheobronchopathia Osteochondroplastica, Two Cases Report and Literature Review.
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- ENT: Ear, Nose & Throat Journal, 2024, v. 103, n. 4, p. NP226, doi. 10.1177/01455613211051662
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- Publication type:
- Article
Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.
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- 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
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
Comparative Analysis of Gut Microbiota from Rats Induced by Se Deficiency and T-2 Toxin.
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- Nutrients, 2023, v. 15, n. 24, p. 5027, doi. 10.3390/nu15245027
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- Publication type:
- Article
A Metabolomics Study of Feces Revealed That a Disturbance of Selenium-Centered Metabolic Bioprocess Was Involved in Kashin–Beck Disease, an Osteoarthropathy Endemic to China.
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- Nutrients, 2023, v. 15, n. 21, p. 4651, doi. 10.3390/nu15214651
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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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- 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
Diagnosing Camurati–Engelmann disease—the age of whole-exome sequencing.
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- Rheumatology, 2023, v. 62, n. 7, p. e221, doi. 10.1093/rheumatology/keac670
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- Publication type:
- Article
Correction: A study on atypical Kashin–Beck disease: an endemic ankle arthritis.
- Published in:
- 2023
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- 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
Health-related quality of life in patients with Kashin–Beck disease is lower than in those with osteoarthritis: a cross-sectional study.
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- Journal of Orthopaedic Surgery & Research, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13018-023-03803-8
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- Publication type:
- Article
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
Utility of TRPS1 in Malignant Effusion Cytology.
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- Acta Cytologica, 2023, v. 67, n. 3, p. 273, doi. 10.1159/000528249
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- Publication type:
- 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
Schimke immunoosseous dysplasia: an ultra-rare disease. a 20-year case series from the tertiary hospital in the Czech Republic.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01413-y
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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
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
Japanese siblings with cartilage‐hair hypoplasia exhibiting different severity.
- Published in:
- 2023
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- Publication type:
- Case Study
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.
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- 2023
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- Publication type:
- Case Study
The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.
- Published in:
- Turkish Archives of Pediatrics, 2023, v. 58, n. 1, p. 98, doi. 10.5152/TurkArchPediatr.2022.22223
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- Publication type:
- Article
A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia.
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- Journal of Clinical Research in Pediatric Endocrinology, 2022, v. 14, n. 4, p. 475, doi. 10.4274/jcrpe.galenos.2021.2021.0099
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- Article
Cleidocranial Dysplasia.
- Published in:
- Applied Radiology, 2022, v. 51, n. 6, p. 40, doi. 10.37549/ar2850
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- 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
Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report.
- Published in:
- Children, 2022, v. 9, n. 10, p. 1447, doi. 10.3390/children9101447
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- Publication type:
- Article
Tracheobronchopathia Osteochondroplastica: A Case Report.
- Published in:
- ENT: Ear, Nose & Throat Journal, 2022, v. 101, n. 8, p. NP341, doi. 10.1177/0145561320969445
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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.
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- 2022
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- Publication type:
- Case Study
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
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
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
Nasu–Hakola disease – A rare type of presenile dementia.
- Published in:
- 2022
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- Publication type:
- Case Study
Larsen syndrome.
- Published in:
- Anaesthesiologie & Intensivmedizin, 2022, v. 63, p. S151, doi. 10.19224/ai2022.S151
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- Publication type:
- Article
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
Nurses' Working Experiences of Their Provision of Cross-Cultural Services to Tibetan Patients With Kashin–Beck Disease: A Qualitative Study.
- Published in:
- Journal of Transcultural Nursing, 2022, v. 33, n. 3, p. 363, doi. 10.1177/10436596221075979
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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
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
PYCNODYSOSTOSIS; A RARE DISEASE CASE REPORT.
- Published in:
- 2022
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- 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
Finding His Voice.
- Published in:
- 2020
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- Publication type:
- journal article
Diagnosis: Mucosal Ulceration with Lingual Sequestration.
- Published in:
- Texas Dental Journal, 2020, v. 137, n. 7, p. 394
- Publication type:
- Article
Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases.
- Published in:
- Case Reports in Obstetrics & Gynecology, 2019, p. 1, doi. 10.1155/2019/7981767
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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
Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 5, p. 429, doi. 10.1111/cge.13424
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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
Effect of tetramethyl thiuram disulfide (thiram) in relation to tibial dyschondroplasia in chickens.
- Published in:
- Environmental Science & Pollution Research, 2018, v. 25, n. 28, p. 28264, doi. 10.1007/s11356-018-2824-2
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- Publication type:
- Article